Uromodulin
Intermolecular
Cysteine 335 and cysteine 335
Cysteine 335 and cysteine 425
Cysteine 425 and cysteine 425
Intramolecular
Cysteine 32 and cysteine 41
Cysteine 120 and cysteine 135
Cysteine 52 and cysteine 63
Cysteine 300 and cysteine 315
Cysteine 571 and cysteine 578
Cysteine 155 and cysteine 170
Cysteine 94 and cysteine 106
More...Cysteine 35 and cysteine 50
Cysteine 137 and cysteine 148
Cysteine 112 and cysteine 126
Cysteine 366 and cysteine 389
Cysteine 77 and cysteine 92
Cysteine 297 and cysteine 306
Cysteine 69 and cysteine 83
Cysteine 174 and cysteine 267
Cysteine 527 and cysteine 582
Cysteine 150 and cysteine 161
Cysteine 195 and cysteine 282
Cysteine 217 and cysteine 255
Cysteine 317 and cysteine 347
Cysteine 248 and cysteine 256
Cysteine 223 and cysteine 287
Cysteine 35 and cysteine 41
Cysteine 506 and cysteine 566
Cysteine 300 and cysteine 306
Cysteine 150 and cysteine 155
Cysteine 150 and cysteine 170
Cysteine 120 and cysteine 126
Cysteine 77 and cysteine 83
Cysteine 32 and cysteine 35
Cysteine 297 and cysteine 300
Cysteine 155 and cysteine 161
Cysteine 161 and cysteine 170
Cysteine 306 and cysteine 315
Cysteine 41 and cysteine 50
Cysteine 126 and cysteine 135
Cysteine 112 and cysteine 120
Cysteine 255 and cysteine 256
Cysteine 83 and cysteine 92
Cysteine 69 and cysteine 77
Cysteine 297 and cysteine 315
Cysteine 32 and cysteine 50
Cysteine 248 and cysteine 255
Cysteine 112 and cysteine 135
Cysteine 92 and cysteine 94
Cysteine 77 and cysteine 106
Cysteine 148 and cysteine 150
Cysteine 77 and cysteine 94
Cysteine 137 and cysteine 150
Cysteine 69 and cysteine 92
Cysteine 92 and cysteine 106
Cysteine 135 and cysteine 137
Cysteine 148 and cysteine 170
Cysteine 217 and cysteine 256
Cysteine 120 and cysteine 137
Cysteine 50 and cysteine 63
Cysteine 120 and cysteine 148
Cysteine 35 and cysteine 63
Cysteine 315 and cysteine 317
Cysteine 135 and cysteine 148
Cysteine 217 and cysteine 248
Cysteine 50 and cysteine 52
Cysteine 300 and cysteine 317
Cysteine 137 and cysteine 170
Cysteine 315 and cysteine 347
Cysteine 148 and cysteine 161
Cysteine 300 and cysteine 347
Cysteine 217 and cysteine 287
Cysteine 255 and cysteine 287
4wrn A 435 B 435
A redox-regulated disulphide may form between two units of Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
ZP-N
begin
434
end
529
score
100.0
distance
2.7934453
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.7934453
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7934453
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7934453
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.8030887
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.8030887
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8030887
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8030887
seq distance
0
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
4.656085
seq distance
2
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
4.656085
seq distance
2
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.2702217
seq distance
2
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.2702217
seq distance
2
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.194863
seq distance
87
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.194863
seq distance
87
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.807476
seq distance
87
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.807476
seq distance
87
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.688884
seq distance
86
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.688884
seq distance
86
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.552853
seq distance
86
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.552853
seq distance
86
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
15.618346
seq distance
95
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
15.618346
seq distance
95
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
15.618346
seq distance
95
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
15.618346
seq distance
95
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.805737
seq distance
95
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.805737
seq distance
95
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.805737
seq distance
95
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.805737
seq distance
95
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
17.92527
seq distance
119
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
17.92527
seq distance
119
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.171202
seq distance
119
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.171202
seq distance
119
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.848028
seq distance
12
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.848028
seq distance
12
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.678877
seq distance
119
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.678877
seq distance
119
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.68402
seq distance
100
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.68402
seq distance
100
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.150715
seq distance
12
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.150715
seq distance
12
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.162067
seq distance
100
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.162067
seq distance
100
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.64677
seq distance
119
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.64677
seq distance
119
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.761654
seq distance
12
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.761654
seq distance
12
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.72875
seq distance
236
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.72875
seq distance
236
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
27.253847
seq distance
123
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
27.253847
seq distance
123
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
27.253847
seq distance
123
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
27.253847
seq distance
123
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
27.663483
seq distance
126
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
27.663483
seq distance
126
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.858751
seq distance
35
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.858751
seq distance
35
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.605032
seq distance
18
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.605032
seq distance
18
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.096619
seq distance
80
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.096619
seq distance
80
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.637827
seq distance
126
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.637827
seq distance
126
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.578302
seq distance
80
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.578302
seq distance
80
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.084084
seq distance
19
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.084084
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.363588
seq distance
20
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.363588
seq distance
20
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.340122
seq distance
123
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.340122
seq distance
123
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.340122
seq distance
123
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.340122
seq distance
123
chain
B
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
33.477318
seq distance
171
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
33.477318
seq distance
171
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
33.62563
seq distance
263
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
33.62563
seq distance
263
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
33.62563
seq distance
263
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
33.62563
seq distance
263
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
35.78379
seq distance
236
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
35.78379
seq distance
236
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.397854
seq distance
263
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.397854
seq distance
263
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
37.882557
seq distance
267
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
37.882557
seq distance
267
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.9064
seq distance
263
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.9064
seq distance
263
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
38.772778
seq distance
220
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
38.772778
seq distance
220
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
39.05923
seq distance
267
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
39.05923
seq distance
267
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.691753
seq distance
270
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.691753
seq distance
270
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
41.01079
seq distance
270
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
41.01079
seq distance
270
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.628475
seq distance
252
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.628475
seq distance
252
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.628475
seq distance
252
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.628475
seq distance
252
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
41.85287
seq distance
220
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
41.85287
seq distance
220
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
46.4849
seq distance
252
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
46.4849
seq distance
252
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
46.4849
seq distance
252
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
46.4849
seq distance
252
chain
B
Details
Redox score
69.81
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
4.75
Half-sphere exposure sum
82
Minimum pKa
nan
% buried
nan
Peptide A name
Uromodulin
Peptide B name
Uromodulin
Peptide A accession
P07911
Peptide B accession
P07911
Peptide A residue number
335 (Residue 435 in this structure)
Peptide B residue number
335 (Residue 435 in this structure)
4wrn A 435 B 525
A redox-regulated disulphide may form between two units of Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
ZP-N
begin
434
end
529
score
100.0
distance
2.8019168
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.8019168
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8019168
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8019168
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.8030887
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.8030887
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8030887
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8030887
seq distance
0
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
4.656085
seq distance
92
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
4.656085
seq distance
92
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.2702217
seq distance
2
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.2702217
seq distance
2
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.85962
seq distance
3
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.85962
seq distance
3
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.807476
seq distance
87
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
11.807476
seq distance
87
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.688884
seq distance
4
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.688884
seq distance
4
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.552853
seq distance
86
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.552853
seq distance
86
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.873041
seq distance
5
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.873041
seq distance
5
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.873041
seq distance
5
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.873041
seq distance
5
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.16983
seq distance
95
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.16983
seq distance
95
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
17.16983
seq distance
95
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
17.16983
seq distance
95
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
18.384611
seq distance
119
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
18.384611
seq distance
119
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.6644
seq distance
29
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.6644
seq distance
29
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.848028
seq distance
78
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.848028
seq distance
78
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.234278
seq distance
10
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.234278
seq distance
10
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.884815
seq distance
29
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.884815
seq distance
29
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.150715
seq distance
12
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.150715
seq distance
12
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.45217
seq distance
12
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.45217
seq distance
12
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.64677
seq distance
119
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.64677
seq distance
119
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.98208
seq distance
100
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.98208
seq distance
100
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.85625
seq distance
236
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.85625
seq distance
236
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.443789
seq distance
35
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.443789
seq distance
35
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
28.238302
seq distance
123
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
28.238302
seq distance
123
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
28.238302
seq distance
123
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
28.238302
seq distance
123
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.605032
seq distance
18
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.605032
seq distance
18
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.016602
seq distance
126
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.016602
seq distance
126
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.096619
seq distance
10
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.096619
seq distance
10
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.533615
seq distance
36
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.533615
seq distance
36
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.578302
seq distance
80
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.578302
seq distance
80
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.084084
seq distance
19
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.084084
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.363588
seq distance
20
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.363588
seq distance
20
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
34.38815
seq distance
171
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
34.38815
seq distance
171
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.71895
seq distance
263
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.71895
seq distance
263
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.71895
seq distance
263
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.71895
seq distance
263
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
36.40679
seq distance
146
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
36.40679
seq distance
146
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.259846
seq distance
173
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.259846
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.91307
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.91307
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.858715
seq distance
177
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.858715
seq distance
177
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
39.01929
seq distance
267
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
39.01929
seq distance
267
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
39.561428
seq distance
220
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
39.561428
seq distance
220
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.589382
seq distance
180
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.589382
seq distance
180
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
41.32749
seq distance
270
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
41.32749
seq distance
270
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
252
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
252
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
252
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
252
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
42.35478
seq distance
130
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
42.35478
seq distance
130
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Details
Redox score
67.35
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
6.01
Half-sphere exposure sum
89
Minimum pKa
nan
% buried
nan
Peptide A name
Uromodulin
Peptide B name
Uromodulin
Peptide A accession
P07911
Peptide B accession
P07911
Peptide A residue number
335 (Residue 435 in this structure)
Peptide B residue number
425 (Residue 525 in this structure)
4wrn A 525 B 525
A redox-regulated disulphide may form between two units of Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
ZP-N
begin
434
end
529
score
100.0
distance
2.8019168
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.8019168
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8019168
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8019168
seq distance
0
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
2.8262382
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.8262382
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8262382
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.8262382
seq distance
0
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
5.963261
seq distance
92
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
5.963261
seq distance
92
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.847419
seq distance
92
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
6.847419
seq distance
92
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.85962
seq distance
3
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.85962
seq distance
3
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.893206
seq distance
3
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
10.893206
seq distance
3
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.853815
seq distance
4
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
12.853815
seq distance
4
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.226396
seq distance
4
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
13.226396
seq distance
4
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.873041
seq distance
5
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
16.873041
seq distance
5
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.873041
seq distance
5
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
16.873041
seq distance
5
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.07642
seq distance
5
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.07642
seq distance
5
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
17.07642
seq distance
5
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
17.07642
seq distance
5
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
18.384611
seq distance
29
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
18.384611
seq distance
29
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.6644
seq distance
29
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
20.6644
seq distance
29
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.835474
seq distance
78
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
20.835474
seq distance
78
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.234278
seq distance
10
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
23.234278
seq distance
10
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.87453
seq distance
29
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.87453
seq distance
29
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.884815
seq distance
29
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
23.884815
seq distance
29
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.196688
seq distance
78
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
24.196688
seq distance
78
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.414335
seq distance
10
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.414335
seq distance
10
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.45217
seq distance
102
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
24.45217
seq distance
102
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.85625
seq distance
146
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
26.85625
seq distance
146
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.443789
seq distance
125
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
27.443789
seq distance
125
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
28.238302
seq distance
33
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
28.238302
seq distance
33
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
28.238302
seq distance
33
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
28.238302
seq distance
33
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
28.762537
seq distance
36
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
28.762537
seq distance
36
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.81217
seq distance
108
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
28.81217
seq distance
108
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.18583
seq distance
10
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.18583
seq distance
10
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.533615
seq distance
36
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
29.533615
seq distance
36
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.780836
seq distance
10
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.780836
seq distance
10
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.3363
seq distance
109
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
31.3363
seq distance
109
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.73151
seq distance
110
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.73151
seq distance
110
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
32.28468
seq distance
33
chain
B
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
34.38815
seq distance
81
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
34.38815
seq distance
81
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.71895
seq distance
173
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.71895
seq distance
173
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.71895
seq distance
173
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.71895
seq distance
173
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
36.40679
seq distance
146
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
36.40679
seq distance
146
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.259846
seq distance
173
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.259846
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.91307
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
37.91307
seq distance
173
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.65776
seq distance
177
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.65776
seq distance
177
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.858715
seq distance
177
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.858715
seq distance
177
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
39.430202
seq distance
130
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
39.430202
seq distance
130
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.589382
seq distance
180
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
40.589382
seq distance
180
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
40.719658
seq distance
180
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
40.719658
seq distance
180
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
162
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
162
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
162
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
41.89373
seq distance
162
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
42.35478
seq distance
130
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
42.35478
seq distance
130
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
47.41121
seq distance
162
chain
B
Details
Redox score
63.98
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
7.95
Half-sphere exposure sum
94
Minimum pKa
nan
% buried
nan
Peptide A name
Uromodulin
Peptide B name
Uromodulin
Peptide A accession
P07911
Peptide B accession
P07911
Peptide A residue number
425 (Residue 525 in this structure)
Peptide B residue number
425 (Residue 525 in this structure)
7q3n U 32 U 41
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8119786
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8119786
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
10.9606495
seq distance
11
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
10.9606495
seq distance
11
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.241901
seq distance
24
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.241901
seq distance
24
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
15.638028
seq distance
18
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
15.638028
seq distance
18
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
29.591242
seq distance
36
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
29.591242
seq distance
36
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.64324
seq distance
52
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.64324
seq distance
52
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.35492
seq distance
62
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.35492
seq distance
62
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.724968
seq distance
67
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.724968
seq distance
67
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
37.873005
seq distance
68
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
37.873005
seq distance
68
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
39.867935
seq distance
71
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
39.867935
seq distance
71
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.436756
seq distance
79
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.436756
seq distance
79
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.476364
seq distance
87
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.476364
seq distance
87
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.168827
seq distance
85
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.168827
seq distance
85
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.87711
seq distance
94
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.87711
seq distance
94
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
109
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
109
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
129
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
129
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.941174
seq distance
109
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.941174
seq distance
109
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.59232
seq distance
114
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.59232
seq distance
114
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
131
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
131
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
161
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
161
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
163
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
163
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
154
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
154
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
195
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
241
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
241
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
144
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
144
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
83.235634
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
83.235634
seq distance
False
chain
F
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
189
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
189
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
251
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
251
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
207
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
207
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
184
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
184
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
184
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
184
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
182
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
182
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
181
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
181
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
176
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
176
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
176
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
176
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
214
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
214
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
259
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
259
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
274
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
274
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
275
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
275
chain
U
Details
Redox score
77.21
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
50
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
32
Residue number B
41
Peptide name
Uromodulin
7q3n U 120 U 135
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.7677307
seq distance
0
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.7677307
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7677307
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7677307
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.7731643
seq distance
6
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.7731643
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
6.705827
seq distance
8
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
6.705827
seq distance
8
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.0832815
seq distance
7
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.0832815
seq distance
7
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
11.468787
seq distance
23
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
11.468787
seq distance
23
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
11.468787
seq distance
13
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
11.468787
seq distance
13
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
14.757857
seq distance
11
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
14.757857
seq distance
11
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
16.575256
seq distance
15
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
16.575256
seq distance
15
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.210926
seq distance
15
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.210926
seq distance
15
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.733332
seq distance
35
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.733332
seq distance
35
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
20.477358
seq distance
20
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
20.477358
seq distance
20
chain
U
D10C
begin
172
end
291
score
100.0
distance
24.724422
seq distance
37
chain
U
D10C
begin
172
end
291
score
100.0
distance
24.724422
seq distance
37
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
26.775059
seq distance
43
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
26.775059
seq distance
43
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
28.312939
seq distance
17
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
28.312939
seq distance
17
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.527464
seq distance
56
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.527464
seq distance
56
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
31.034822
seq distance
67
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
31.034822
seq distance
67
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.915024
seq distance
68
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.915024
seq distance
68
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
36.938828
seq distance
69
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
36.938828
seq distance
69
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
39.48192
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.410213
seq distance
61
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.410213
seq distance
61
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.51997
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.51997
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
45.191322
seq distance
147
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
45.191322
seq distance
147
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
45.47063
seq distance
113
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
45.47063
seq distance
113
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
45.69738
seq distance
95
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
45.69738
seq distance
95
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
47.660564
seq distance
50
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
47.660564
seq distance
50
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
50.585938
seq distance
157
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
50.585938
seq distance
157
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
50.621693
seq distance
88
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
50.621693
seq distance
88
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.803368
seq distance
120
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.803368
seq distance
120
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.03928
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.03928
seq distance
False
chain
F
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.682655
seq distance
87
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.682655
seq distance
87
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.579037
seq distance
165
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.579037
seq distance
165
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
62.22109
seq distance
180
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
62.22109
seq distance
180
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
65.34481
seq distance
181
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
65.34481
seq distance
181
chain
U
Details
Redox score
77.13
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.02
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
120
Residue number B
135
Peptide name
Uromodulin
7pfp C 52 C 63
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8161354
seq distance
0
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8161354
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
2.8688495
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
2.8688495
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
4.6634545
seq distance
4
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
4.6634545
seq distance
4
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.455582
seq distance
2
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.455582
seq distance
2
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
18.936543
seq distance
14
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
18.936543
seq distance
14
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.955116
seq distance
30
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.955116
seq distance
30
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.335375
seq distance
40
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.335375
seq distance
40
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.303766
seq distance
45
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.303766
seq distance
45
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
33.65225
seq distance
46
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
33.65225
seq distance
46
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
36.70305
seq distance
49
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
36.70305
seq distance
49
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
37.13258
seq distance
65
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
37.13258
seq distance
65
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
38.609615
seq distance
57
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
38.609615
seq distance
57
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
40.17753
seq distance
63
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
40.17753
seq distance
63
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
40.390633
seq distance
72
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
40.390633
seq distance
72
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
47.95944
seq distance
85
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
47.95944
seq distance
85
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
47.95944
seq distance
85
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
47.95944
seq distance
85
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
49.659027
seq distance
87
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
49.659027
seq distance
87
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
53.764973
seq distance
87
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
53.764973
seq distance
87
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
55.01014
seq distance
107
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
55.01014
seq distance
107
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
57.362682
seq distance
92
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
57.362682
seq distance
92
chain
C
D10C
begin
172
end
291
score
100.0
distance
60.61058
seq distance
109
chain
C
D10C
begin
172
end
291
score
100.0
distance
60.61058
seq distance
109
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
65.932335
seq distance
139
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
65.932335
seq distance
139
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.26133
seq distance
141
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.26133
seq distance
141
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
75.960014
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
75.960014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
75.960014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
75.960014
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
76.426346
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
76.8299
seq distance
132
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
76.8299
seq distance
132
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
76.87487
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
76.87487
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.87487
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.87487
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
77.324265
seq distance
219
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
77.324265
seq distance
219
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
81.24221
seq distance
122
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
81.24221
seq distance
122
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
81.40291
seq distance
185
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
81.40291
seq distance
185
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
81.42899
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
81.42899
seq distance
False
chain
B
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
81.55232
seq distance
167
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
81.55232
seq distance
167
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
82.392784
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
82.392784
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
82.392784
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
82.392784
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
83.4537
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
83.4537
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
83.49782
seq distance
162
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
83.49782
seq distance
162
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
83.49782
seq distance
162
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
83.49782
seq distance
162
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
84.50716
seq distance
160
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
84.50716
seq distance
160
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
85.434586
seq distance
229
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
85.434586
seq distance
229
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
85.91124
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
85.91124
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
85.91124
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
85.91124
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
86.71053
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
86.71053
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
87.76895
seq distance
159
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
87.76895
seq distance
159
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
88.28851
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
88.28851
seq distance
154
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
88.28851
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
88.28851
seq distance
154
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
88.773476
seq distance
192
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
88.773476
seq distance
192
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
90.48772
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
90.48772
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
90.49365
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
90.49365
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
93.17297
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
93.17297
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.5992
seq distance
237
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.5992
seq distance
237
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
96.73143
seq distance
271
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
96.73143
seq distance
271
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
96.73143
seq distance
271
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
96.73143
seq distance
271
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.33874
seq distance
252
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.33874
seq distance
252
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
98.23557
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
98.23557
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
100.37826
seq distance
253
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
100.37826
seq distance
253
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
101.04673
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
101.04673
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
102.47834
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
102.47834
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.0464
seq distance
284
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.0464
seq distance
284
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
103.37836
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
103.37836
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.44469
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.44469
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
103.96454
seq distance
254
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
103.96454
seq distance
254
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
104.91644
seq distance
352
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
104.91644
seq distance
352
chain
C
D10C
begin
172
end
291
score
100.0
distance
107.39444
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
107.39444
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.92667
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.92667
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
110.62507
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
110.62507
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
111.04229
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
111.04229
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
112.200424
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
112.200424
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.438644
seq distance
358
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.438644
seq distance
358
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
112.61584
seq distance
270
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
112.61584
seq distance
270
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
113.994446
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
113.994446
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
114.173035
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
114.173035
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
114.32935
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
114.32935
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.92191
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.92191
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
116.434265
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
116.434265
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
116.58323
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
116.58323
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
117.071976
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
117.071976
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.545
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.545
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
118.77371
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
118.77371
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
118.77371
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
118.77371
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
119.27317
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
119.27317
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.11649
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.11649
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
121.34271
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
121.34271
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
123.16828
seq distance
367
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
123.16828
seq distance
367
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
124.39272
seq distance
372
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
124.39272
seq distance
372
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.23451
seq distance
367
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.23451
seq distance
367
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
130.447
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
130.447
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
133.40541
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
133.40541
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
139.73927
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
139.73927
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
139.89899
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
139.89899
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
144.6562
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
144.6562
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
144.6562
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
144.6562
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
145.0892
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
145.0892
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
145.86537
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
145.86537
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.19643
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.19643
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.58458
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.58458
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
159.37093
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
159.37093
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.62474
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.62474
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
162.64659
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
162.64659
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
167.84758
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
167.84758
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
168.04929
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
168.04929
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.29883
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.29883
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.29883
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.29883
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.34653
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.34653
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
182.34271
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
182.34271
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
185.33528
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
185.33528
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
188.73338
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
188.73338
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.68262
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.68262
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
193.74368
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
193.74368
seq distance
False
chain
A
Details
Redox score
77.12
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
58
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
52
Residue number B
63
Peptide name
Uromodulin
4wrn A 400 A 415
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
272
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
272
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
Details
Redox score
77.02
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.03
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
300 (Residue 400 in this structure)
Residue number B
315 (Residue 415 in this structure)
Peptide name
Uromodulin
4wrn A 671 A 678
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7786016
seq distance
0
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7786016
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7786016
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7786016
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
2.8212295
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
2.8212295
seq distance
0
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
14.613612
seq distance
118
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
14.613612
seq distance
118
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
14.99557
seq distance
113
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
14.99557
seq distance
113
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
14.99557
seq distance
113
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
14.99557
seq distance
113
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
14.99557
seq distance
106
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
14.99557
seq distance
106
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
15.504538
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
15.504538
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
15.504538
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
15.504538
seq distance
False
chain
B
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
16.65473
seq distance
65
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
16.65473
seq distance
65
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
16.954891
seq distance
20
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
16.954891
seq distance
20
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
16.954891
seq distance
20
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
16.954891
seq distance
20
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
17.892797
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
17.892797
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
18.988947
seq distance
142
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
18.988947
seq distance
142
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
19.228426
seq distance
9
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
19.228426
seq distance
9
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
19.228426
seq distance
9
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
19.228426
seq distance
9
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
19.595219
seq distance
141
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
19.595219
seq distance
141
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
21.441004
seq distance
110
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
21.441004
seq distance
110
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.296024
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
24.296024
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.890589
seq distance
136
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
24.890589
seq distance
136
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
25.271217
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
25.271217
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
25.33889
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
25.33889
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
27.110113
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
27.110113
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
27.667013
seq distance
24
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
27.667013
seq distance
24
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
28.067343
seq distance
15
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
28.067343
seq distance
15
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
29.609282
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
29.609282
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
29.825449
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
29.825449
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
29.825449
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
29.825449
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
29.914562
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
29.914562
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
33.50807
seq distance
27
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
33.50807
seq distance
27
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
33.59485
seq distance
238
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
33.59485
seq distance
238
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
34.075924
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
34.075924
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
34.958633
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
34.958633
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
35.560192
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
35.560192
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
37.56323
seq distance
149
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
37.56323
seq distance
149
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
38.11926
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
38.11926
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
38.11926
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
38.11926
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
38.257095
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
38.257095
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
40.1831
seq distance
150
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
40.1831
seq distance
150
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
44.661808
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
44.661808
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
46.79543
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
46.79543
seq distance
False
chain
B
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
47.26197
seq distance
248
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
47.26197
seq distance
248
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
49.005955
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
49.005955
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
49.005955
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
49.005955
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
49.89248
seq distance
271
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
49.89248
seq distance
271
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
50.46396
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
50.46396
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
50.609604
seq distance
224
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
50.609604
seq distance
224
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
50.80412
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
50.80412
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
53.954906
seq distance
254
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
53.954906
seq distance
254
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
54.8455
seq distance
256
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
54.8455
seq distance
256
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
55.771286
seq distance
255
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
55.771286
seq distance
255
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
58.387566
seq distance
156
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
58.387566
seq distance
156
chain
A
Details
Redox score
76.91
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.04
Half-sphere exposure sum
57
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
571 (Residue 671 in this structure)
Residue number B
578 (Residue 678 in this structure)
Peptide name
Uromodulin
7pfp C 155 C 170
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8171644
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8171644
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8171644
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8171644
seq distance
0
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.837129
seq distance
0
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.837129
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.910506
seq distance
5
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.910506
seq distance
5
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
6.8541474
seq distance
6
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
6.8541474
seq distance
6
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.513134
seq distance
2
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.513134
seq distance
2
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
8.683127
seq distance
7
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
8.683127
seq distance
7
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
8.683127
seq distance
7
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
8.683127
seq distance
7
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
13.285973
seq distance
32
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
13.285973
seq distance
32
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
15.821027
seq distance
20
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
15.821027
seq distance
20
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.257113
seq distance
35
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.257113
seq distance
35
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.007792
seq distance
29
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.007792
seq distance
29
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.167288
seq distance
34
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.167288
seq distance
34
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387806
seq distance
66
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
21.969095
seq distance
43
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
21.969095
seq distance
43
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.991432
seq distance
27
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.991432
seq distance
27
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.554115
seq distance
60
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.554115
seq distance
60
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.726013
seq distance
78
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.726013
seq distance
78
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.621218
seq distance
58
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.621218
seq distance
58
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.621218
seq distance
48
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.621218
seq distance
48
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.92189
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.92189
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.65387
seq distance
112
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.65387
seq distance
112
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.966518
seq distance
15
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.966518
seq distance
15
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.344013
seq distance
46
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.344013
seq distance
46
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
32.307186
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
32.307186
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
32.307186
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
32.307186
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
32.549625
seq distance
53
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
32.549625
seq distance
53
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986526
seq distance
47
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986526
seq distance
47
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986526
seq distance
47
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986526
seq distance
47
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.0871
seq distance
55
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.0871
seq distance
55
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.0871
seq distance
55
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.0871
seq distance
55
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
33.48188
seq distance
122
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
33.48188
seq distance
122
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.39628
seq distance
85
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.39628
seq distance
85
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
35.518696
seq distance
52
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
35.518696
seq distance
52
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
35.73733
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
35.73733
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
35.73733
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
35.73733
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45571
seq distance
145
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45571
seq distance
145
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812084
seq distance
130
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812084
seq distance
130
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.30625
seq distance
78
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.30625
seq distance
78
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
45.73573
seq distance
164
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
45.73573
seq distance
164
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
45.73573
seq distance
164
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
45.73573
seq distance
164
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.78778
seq distance
52
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.78778
seq distance
52
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
45.846516
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
45.846516
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
45.846516
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
45.846516
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.255493
seq distance
146
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.255493
seq distance
146
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.44741
seq distance
91
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.44741
seq distance
91
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
47.89682
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
47.89682
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.03331
seq distance
147
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.03331
seq distance
147
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.39043
seq distance
177
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.39043
seq distance
177
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
51.402405
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
51.402405
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
51.402405
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
51.402405
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.910843
seq distance
103
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.910843
seq distance
103
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.257732
seq distance
245
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.257732
seq distance
245
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
55.870094
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
55.870094
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
59.701244
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
59.701244
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
59.701244
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
59.701244
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
59.701244
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
59.701244
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
60.154427
seq distance
96
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
60.154427
seq distance
96
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
60.50114
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
60.50114
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
62.214153
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
62.214153
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
62.241985
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
62.241985
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.41294
seq distance
251
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.41294
seq distance
251
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.841602
seq distance
163
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.841602
seq distance
163
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
70.54055
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
70.54055
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
70.69816
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
70.69816
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
70.83479
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
70.83479
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
71.94859
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
71.94859
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
80.98127
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
80.98127
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
82.13059
seq distance
260
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
82.13059
seq distance
260
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.43392
seq distance
260
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.43392
seq distance
260
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
83.50688
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
83.50688
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
83.62398
seq distance
265
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
83.62398
seq distance
265
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
86.64567
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
86.64567
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.90858
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.90858
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.679276
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.679276
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
92.10329
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
92.10329
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
93.96685
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
93.96685
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.55068
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.55068
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
96.841576
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
96.841576
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
98.188805
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
98.188805
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
99.72348
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
99.72348
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
99.72348
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
99.72348
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
99.93267
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
99.93267
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
100.408676
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
100.408676
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
101.43414
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
101.43414
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
103.758896
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
103.758896
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
105.51797
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
105.51797
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
106.4839
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
106.4839
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
106.4839
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
106.4839
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.13035
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.13035
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.13035
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.13035
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
107.88579
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
107.88579
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
109.39986
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
109.39986
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
112.09044
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
112.09044
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.686356
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.686356
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
117.39175
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
117.39175
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.37764
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
124.24522
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
124.24522
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
130.00143
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
130.00143
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
131.38486
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
131.38486
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
131.7328
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
131.7328
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
132.4358
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
132.4358
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.70291
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.70291
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.70291
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.70291
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.72858
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.72858
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
144.41682
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
144.41682
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.78117
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.78117
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.80592
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.80592
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
153.05173
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
153.05173
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
157.08423
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
157.08423
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
157.08423
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
157.08423
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.86241
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.86241
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.17426
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.17426
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.70432
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.70432
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
169.34314
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
169.34314
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.46278
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.46278
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.74185
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.74185
seq distance
False
chain
A
Details
Redox score
76.82
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
155
Residue number B
170
Peptide name
Uromodulin
7q3n U 94 U 106
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.782832
seq distance
0
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.782832
seq distance
0
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.782832
seq distance
0
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.782832
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
7.690023
seq distance
17
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
7.690023
seq distance
17
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.563687
seq distance
2
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.563687
seq distance
2
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.907727
seq distance
3
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.907727
seq distance
3
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.0825815
seq distance
3
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.0825815
seq distance
3
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.313266
seq distance
22
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.313266
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.355319
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.355319
seq distance
6
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
17.379925
seq distance
30
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
17.379925
seq distance
30
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.002985
seq distance
20
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.002985
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
20.059763
seq distance
29
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
20.059763
seq distance
29
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
20.682224
seq distance
14
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
20.682224
seq distance
14
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
24.412262
seq distance
42
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
24.412262
seq distance
42
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
29.265303
seq distance
35
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
29.265303
seq distance
35
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
30.546476
seq distance
42
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
30.546476
seq distance
42
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
30.546476
seq distance
42
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
30.546476
seq distance
42
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
35.44847
seq distance
44
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
35.44847
seq distance
44
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
35.900322
seq distance
44
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
35.900322
seq distance
44
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.624767
seq distance
64
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.624767
seq distance
64
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.382027
seq distance
49
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.382027
seq distance
49
chain
U
D10C
begin
172
end
291
score
100.0
distance
43.415325
seq distance
66
chain
U
D10C
begin
172
end
291
score
100.0
distance
43.415325
seq distance
66
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.146347
seq distance
96
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.146347
seq distance
96
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.88773
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.88773
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.00277
seq distance
98
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.00277
seq distance
98
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.353485
seq distance
130
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.47679
seq distance
89
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.47679
seq distance
89
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
63.860188
seq distance
176
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
63.860188
seq distance
176
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
63.941288
seq distance
142
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
63.941288
seq distance
142
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.51215
seq distance
124
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.51215
seq distance
124
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
66.84283
seq distance
79
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
66.84283
seq distance
79
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
69.20236
seq distance
186
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
69.20236
seq distance
186
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.376945
seq distance
119
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.376945
seq distance
119
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.376945
seq distance
119
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.376945
seq distance
119
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
69.801926
seq distance
117
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
69.801926
seq distance
117
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
70.469666
seq distance
111
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
70.469666
seq distance
111
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
70.469666
seq distance
111
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
70.469666
seq distance
111
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.18799
seq distance
149
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.18799
seq distance
149
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
72.82217
seq distance
116
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
72.82217
seq distance
116
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
80.55568
seq distance
194
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
80.55568
seq distance
194
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
81.11633
seq distance
209
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
81.11633
seq distance
209
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
84.24271
seq distance
210
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
84.24271
seq distance
210
chain
U
Details
Redox score
76.82
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
94
Residue number B
106
Peptide name
Uromodulin
7pfp C 35 C 50
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8290236
seq distance
0
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8290236
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.121767
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.121767
seq distance
2
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.022167
seq distance
9
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.022167
seq distance
9
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.349313
seq distance
15
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.349313
seq distance
15
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.547386
seq distance
27
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.547386
seq distance
27
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.365067
seq distance
43
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.365067
seq distance
43
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
31.983297
seq distance
53
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
31.983297
seq distance
53
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.939625
seq distance
58
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.939625
seq distance
58
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
39.580208
seq distance
59
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
39.580208
seq distance
59
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
41.572693
seq distance
62
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
41.572693
seq distance
62
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.90158
seq distance
70
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.90158
seq distance
70
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.261265
seq distance
78
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.261265
seq distance
78
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.2692
seq distance
76
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.2692
seq distance
76
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.736
seq distance
85
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.736
seq distance
85
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
52.35551
seq distance
100
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
52.35551
seq distance
100
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.44546
seq distance
98
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.44546
seq distance
98
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.44546
seq distance
98
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.44546
seq distance
98
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
58.168034
seq distance
100
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
58.168034
seq distance
100
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
58.495045
seq distance
120
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
58.495045
seq distance
120
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.667732
seq distance
105
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.667732
seq distance
105
chain
C
D10C
begin
172
end
291
score
100.0
distance
63.35548
seq distance
122
chain
C
D10C
begin
172
end
291
score
100.0
distance
63.35548
seq distance
122
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
68.713425
seq distance
152
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
68.713425
seq distance
152
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
73.391266
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
73.391266
seq distance
154
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
78.89457
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
78.89457
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
78.89457
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
78.89457
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
79.3981
seq distance
145
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
79.3981
seq distance
145
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
79.89484
seq distance
186
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.41412
seq distance
232
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.41412
seq distance
232
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
81.12042
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
81.12042
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
81.12042
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
81.12042
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
83.29138
seq distance
135
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
83.29138
seq distance
135
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
84.05274
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
84.05274
seq distance
False
chain
B
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.858246
seq distance
180
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.858246
seq distance
180
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
85.287994
seq distance
198
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
85.287994
seq distance
198
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
86.03551
seq distance
175
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
86.03551
seq distance
175
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
86.03551
seq distance
175
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
86.03551
seq distance
175
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
86.18628
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
86.18628
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
86.18628
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
86.18628
seq distance
False
chain
B
EGF-like 4
begin
292
end
323
score
100.0
distance
86.8402
seq distance
242
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
86.8402
seq distance
242
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
86.85758
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
86.85758
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
86.991234
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
86.991234
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
88.29699
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
88.29699
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
88.29699
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
88.29699
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
89.555336
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
89.555336
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
90.2815
seq distance
172
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
90.2815
seq distance
172
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
91.69005
seq distance
167
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
91.69005
seq distance
167
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
91.69005
seq distance
167
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
91.69005
seq distance
167
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.68574
seq distance
205
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.68574
seq distance
205
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
92.85449
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
92.85449
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
93.93325
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
93.93325
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
95.47718
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
95.47718
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.74348
seq distance
250
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.74348
seq distance
250
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
97.60033
seq distance
284
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
97.60033
seq distance
284
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
97.60033
seq distance
284
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
97.60033
seq distance
284
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
98.67889
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
98.67889
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
98.67889
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
98.67889
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
99.136734
seq distance
265
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
99.136734
seq distance
265
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
99.622696
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
99.622696
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
102.27828
seq distance
266
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
102.27828
seq distance
266
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
103.33549
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
103.33549
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
104.26743
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
104.26743
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
104.63669
seq distance
297
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
104.63669
seq distance
297
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.55836
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.55836
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.74417
seq distance
267
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.74417
seq distance
267
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
106.29914
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
106.29914
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
107.40592
seq distance
365
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
107.40592
seq distance
365
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
109.526184
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
109.526184
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
110.96396
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
110.96396
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
111.068504
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
111.068504
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.41743
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.41743
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
113.05908
seq distance
283
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
113.05908
seq distance
283
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.56394
seq distance
371
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.56394
seq distance
371
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.32423
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.32423
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
115.39978
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
115.39978
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
115.901375
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
115.901375
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
116.282616
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
116.282616
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
116.282616
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
116.282616
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
116.53657
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
116.53657
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.95261
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.95261
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
117.32027
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
117.32027
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
117.32027
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
117.32027
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.553856
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.553856
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
117.801155
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
117.801155
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.18909
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.18909
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.18909
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.18909
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
120.69396
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
120.69396
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
121.01456
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
121.01456
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
121.07848
seq distance
380
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
121.07848
seq distance
380
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
121.25938
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
121.25938
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
122.39843
seq distance
385
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
122.39843
seq distance
385
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.17549
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.17549
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
124.476234
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
124.476234
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
126.25781
seq distance
380
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
126.25781
seq distance
380
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
133.87886
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
133.87886
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
137.11835
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
137.11835
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
137.13405
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
137.13405
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
137.94914
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.29407
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.29407
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.29407
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.29407
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
143.71083
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
143.71083
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
149.1821
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
149.1821
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
150.03242
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
150.03242
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
150.1863
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
150.1863
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
150.22308
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
150.22308
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
153.79062
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
153.79062
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
153.79062
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
153.79062
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
163.7138
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
163.7138
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
164.02644
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
164.02644
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
166.8134
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
166.8134
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
172.02751
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
172.02751
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
172.27051
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
172.27051
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
176.88353
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
176.88353
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
176.88353
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
176.88353
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
180.51573
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
180.51573
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
188.13716
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
188.13716
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
190.23029
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
190.23029
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
194.30244
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
194.30244
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
195.17963
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
195.17963
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
199.50182
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
199.50182
seq distance
False
chain
A
Details
Redox score
76.82
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
35
Residue number B
50
Peptide name
Uromodulin
7pfp A 137 A 148
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7956314
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.171629
seq distance
2
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.171629
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.7718234
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.7718234
seq distance
2
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
7.7718234
seq distance
2
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
7.7718234
seq distance
2
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
8.741912
seq distance
17
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
8.741912
seq distance
17
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
9.8298855
seq distance
22
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
9.8298855
seq distance
22
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.505259
seq distance
11
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.505259
seq distance
11
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.247609
seq distance
7
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.247609
seq distance
7
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.680098
seq distance
9
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.680098
seq distance
9
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.913527
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.913527
seq distance
25
chain
A
D10C
begin
172
end
291
score
100.0
distance
16.717892
seq distance
24
chain
A
D10C
begin
172
end
291
score
100.0
distance
16.717892
seq distance
24
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.90847
seq distance
40
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.90847
seq distance
40
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.90847
seq distance
30
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.90847
seq distance
30
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
21.514332
seq distance
54
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
21.514332
seq distance
54
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.995441
seq distance
28
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.995441
seq distance
28
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
27.750523
seq distance
56
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
27.750523
seq distance
56
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
30.644466
seq distance
88
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.313107
seq distance
47
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.313107
seq distance
47
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.381744
seq distance
60
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.381744
seq distance
60
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.631977
seq distance
100
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.631977
seq distance
100
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
35.734814
seq distance
134
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
35.734814
seq distance
134
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
35.873714
seq distance
82
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
35.873714
seq distance
82
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
38.18435
seq distance
37
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
38.18435
seq distance
37
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.70418
seq distance
34
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.70418
seq distance
34
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.13376
seq distance
73
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.13376
seq distance
73
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
40.689747
seq distance
77
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
40.689747
seq distance
77
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
40.689747
seq distance
77
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
40.689747
seq distance
77
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
40.925568
seq distance
75
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
40.925568
seq distance
75
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.432438
seq distance
69
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.432438
seq distance
69
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.432438
seq distance
69
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.432438
seq distance
69
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
42.746067
seq distance
144
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
42.746067
seq distance
144
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.214687
seq distance
107
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.214687
seq distance
107
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
43.96469
seq distance
74
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
43.96469
seq distance
74
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.052254
seq distance
85
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.052254
seq distance
85
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.910748
seq distance
78
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.910748
seq distance
78
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
52.957916
seq distance
152
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
52.957916
seq distance
152
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
53.13821
seq distance
167
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
53.13821
seq distance
167
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
54.134377
seq distance
186
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
54.134377
seq distance
186
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
54.134377
seq distance
186
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
54.134377
seq distance
186
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
55.94548
seq distance
168
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
55.94548
seq distance
168
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
59.5518
seq distance
199
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
59.5518
seq distance
199
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
59.68746
seq distance
169
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
59.68746
seq distance
169
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
62.88129
seq distance
267
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
62.88129
seq distance
267
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
71.40894
seq distance
273
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
71.40894
seq distance
273
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
72.08804
seq distance
185
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
72.08804
seq distance
185
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
73.82218
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
73.82218
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.3571
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.3571
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
77.50742
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
77.50742
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
79.722275
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
79.722275
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
83.95473
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
83.95473
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
83.95473
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
83.95473
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
87.29288
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
87.29288
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
89.1161
seq distance
282
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
89.1161
seq distance
282
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
90.5028
seq distance
287
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
90.5028
seq distance
287
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
90.70739
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
90.70739
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
90.72887
seq distance
282
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
90.72887
seq distance
282
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
107.25408
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
107.25408
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
109.360725
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
109.360725
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
109.360725
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
109.360725
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
109.74169
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
109.74169
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
113.408775
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
113.408775
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
113.408775
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
113.408775
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
113.88592
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
113.88592
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
113.88592
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
113.88592
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
116.97775
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
116.97775
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
118.03472
seq distance
306
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
118.03472
seq distance
306
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
118.6854
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
118.6854
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
118.6854
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
118.6854
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
119.91035
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
119.91035
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
122.14429
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
122.14429
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
122.543434
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
122.543434
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
123.75759
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
123.75759
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
125.00308
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
125.00308
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
126.065994
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
126.065994
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
127.40013
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
127.40013
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
127.40013
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
127.40013
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
127.67731
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
127.67731
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
129.79326
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
129.79326
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
130.1555
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
130.1555
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.93272
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.93272
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
131.45734
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
131.45734
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
131.50412
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
131.50412
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
131.59888
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
131.59888
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
132.54541
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
132.54541
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
132.59715
seq distance
306
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
132.59715
seq distance
306
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.01743
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.01743
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.01743
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.01743
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
134.3218
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
134.3218
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
134.61583
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
134.61583
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
134.61583
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
134.61583
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
137.01703
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
137.01703
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
137.41269
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
137.41269
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
137.47527
seq distance
310
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
137.47527
seq distance
310
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
137.47527
seq distance
310
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
137.47527
seq distance
310
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
138.07489
seq distance
438
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
138.07489
seq distance
438
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
138.07489
seq distance
438
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
138.07489
seq distance
438
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
138.12483
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
138.12483
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
138.34567
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
138.34567
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
138.55336
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
138.55336
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
138.71825
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
138.71825
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
140.8119
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
140.8119
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
141.63147
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.05077
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.05077
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
144.2119
seq distance
313
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
144.2119
seq distance
313
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.34079
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.34079
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
145.4508
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
145.4508
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
145.83247
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
145.83247
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
147.10237
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
147.10237
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
147.29953
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
147.29953
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
147.84888
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
147.84888
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.03249
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.03249
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
154.13837
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
154.13837
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
154.16017
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
154.16017
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
154.87341
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
154.87341
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
155.58533
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
155.58533
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
158.72586
seq distance
407
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
158.72586
seq distance
407
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
163.49338
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
163.49338
seq distance
False
chain
C
Details
Redox score
76.72
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
137
Residue number B
148
Peptide name
Uromodulin
7q3n U 112 U 126
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.827526
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.827526
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.827526
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.827526
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8279798
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8279798
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.279969
seq distance
2
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.279969
seq distance
2
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
5.40126
seq distance
9
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
5.40126
seq distance
9
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
6.472377
seq distance
6
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
6.472377
seq distance
6
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
7.395302
seq distance
15
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
7.395302
seq distance
15
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
7.395302
seq distance
5
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
7.395302
seq distance
5
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.473739
seq distance
3
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.473739
seq distance
3
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
15.755187
seq distance
22
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
15.755187
seq distance
22
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
15.755187
seq distance
22
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
15.755187
seq distance
22
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
20.021029
seq distance
24
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
20.021029
seq distance
24
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
20.648485
seq distance
24
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
20.648485
seq distance
24
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
21.355618
seq distance
44
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
21.355618
seq distance
44
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
22.425615
seq distance
29
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
22.425615
seq distance
29
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
23.810514
seq distance
35
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
23.810514
seq distance
35
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
24.07765
seq distance
9
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
24.07765
seq distance
9
chain
U
D10C
begin
172
end
291
score
100.0
distance
27.061386
seq distance
46
chain
U
D10C
begin
172
end
291
score
100.0
distance
27.061386
seq distance
46
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
29.61023
seq distance
48
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
29.61023
seq distance
48
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
34.114544
seq distance
76
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
34.114544
seq distance
76
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
35.948414
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
35.948414
seq distance
60
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
39.808273
seq distance
78
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
39.808273
seq distance
78
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
41.26832
seq distance
110
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.443485
seq distance
53
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.443485
seq distance
53
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
48.520645
seq distance
122
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
48.520645
seq distance
122
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
48.57747
seq distance
69
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
48.57747
seq distance
69
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
48.65658
seq distance
104
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
48.65658
seq distance
104
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
49.369213
seq distance
156
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
49.369213
seq distance
156
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
50.936306
seq distance
59
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
50.936306
seq distance
59
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
52.911263
seq distance
166
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
52.911263
seq distance
166
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
54.016678
seq distance
97
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
54.016678
seq distance
97
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
54.02383
seq distance
99
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
54.02383
seq distance
99
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
54.02383
seq distance
99
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
54.02383
seq distance
99
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.254425
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.254425
seq distance
False
chain
F
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
54.651417
seq distance
91
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
54.651417
seq distance
91
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
54.651417
seq distance
91
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
54.651417
seq distance
91
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
55.906315
seq distance
129
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
55.906315
seq distance
129
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
57.104527
seq distance
96
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
57.104527
seq distance
96
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
64.28236
seq distance
174
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
64.28236
seq distance
174
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
64.76017
seq distance
189
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
64.76017
seq distance
189
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
67.90575
seq distance
190
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
67.90575
seq distance
190
chain
U
Details
Redox score
76.63
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
112
Residue number B
126
Peptide name
Uromodulin
4wrn A 466 A 489
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
ZP-N
begin
434
end
529
score
100.0
distance
2.7824957
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.7824957
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7824957
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7824957
seq distance
0
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
14.255757
seq distance
33
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
14.255757
seq distance
33
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
15.121644
seq distance
32
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
15.121644
seq distance
32
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
15.142679
seq distance
33
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
15.142679
seq distance
33
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.400658
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.400658
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
18.958767
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
18.958767
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
18.958767
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
18.958767
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
21.323896
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
21.323896
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.084986
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.084986
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
23.00423
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
23.00423
seq distance
19
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
23.823507
seq distance
26
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
23.823507
seq distance
26
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
24.04435
seq distance
41
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
24.04435
seq distance
41
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
24.244652
seq distance
41
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
24.244652
seq distance
41
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.380974
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.380974
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
25.217546
seq distance
65
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
25.217546
seq distance
65
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
26.779314
seq distance
43
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
26.779314
seq distance
43
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
26.947977
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
26.947977
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
27.06432
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
27.06432
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
27.69209
seq distance
49
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
27.69209
seq distance
49
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
27.835032
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
27.835032
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
27.835032
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
27.835032
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
27.959898
seq distance
65
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
27.959898
seq distance
65
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
28.033974
seq distance
46
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
28.033974
seq distance
46
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
30.00426
seq distance
50
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
30.00426
seq distance
50
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
30.51461
seq distance
66
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
30.51461
seq distance
66
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.276602
seq distance
51
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
31.276602
seq distance
51
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
34.31854
seq distance
72
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
34.31854
seq distance
72
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.60431
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.60431
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
36.760853
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
36.760853
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
37.618996
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
37.618996
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
37.871227
seq distance
69
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
37.871227
seq distance
69
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
37.871227
seq distance
69
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
37.871227
seq distance
69
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
41.405376
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
41.405376
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
41.459755
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
41.459755
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
41.94063
seq distance
209
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
41.94063
seq distance
209
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
42.3663
seq distance
182
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
42.3663
seq distance
182
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
42.76747
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
42.76747
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
42.930748
seq distance
216
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
42.930748
seq distance
216
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
43.013794
seq distance
209
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
43.013794
seq distance
209
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
43.0306
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
43.0306
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
43.0306
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
43.0306
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
43.238396
seq distance
213
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
43.238396
seq distance
213
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
44.089188
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
44.089188
seq distance
False
chain
B
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
44.224686
seq distance
117
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
44.224686
seq distance
117
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
45.126343
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
45.126343
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
45.96838
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
45.96838
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.00787
seq distance
166
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.00787
seq distance
166
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
46.911816
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
46.911816
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
46.911816
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
46.911816
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
55.249435
seq distance
198
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
55.249435
seq distance
198
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
55.249435
seq distance
198
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
55.249435
seq distance
198
chain
A
Details
Redox score
76.62
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.04
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
366 (Residue 466 in this structure)
Residue number B
389 (Residue 489 in this structure)
Peptide name
Uromodulin
7q3n U 77 U 92
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8543925
seq distance
0
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8543925
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8608782
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8608782
seq distance
0
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.55915
seq distance
1
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.55915
seq distance
1
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
9.865478
seq distance
11
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
9.865478
seq distance
11
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
10.629185
seq distance
13
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
10.629185
seq distance
13
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.099732
seq distance
16
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.099732
seq distance
16
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.281221
seq distance
17
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.281221
seq distance
17
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
17.895111
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
17.895111
seq distance
25
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.425163
seq distance
36
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.425163
seq distance
36
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.504501
seq distance
18
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.504501
seq distance
18
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
21.554977
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
21.554977
seq distance
20
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.484701
seq distance
34
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.484701
seq distance
34
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.041447
seq distance
28
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.041447
seq distance
28
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.27269
seq distance
43
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.27269
seq distance
43
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.34061
seq distance
56
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.34061
seq distance
56
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.34061
seq distance
56
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.34061
seq distance
56
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
40.431892
seq distance
58
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
40.431892
seq distance
58
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
41.928436
seq distance
58
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
41.928436
seq distance
58
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.675842
seq distance
78
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.675842
seq distance
78
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.92869
seq distance
63
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.92869
seq distance
63
chain
U
D10C
begin
172
end
291
score
100.0
distance
49.43796
seq distance
80
chain
U
D10C
begin
172
end
291
score
100.0
distance
49.43796
seq distance
80
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.861126
seq distance
110
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.861126
seq distance
110
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
57.841576
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
57.841576
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.670757
seq distance
112
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.670757
seq distance
112
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.983128
seq distance
144
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.61204
seq distance
103
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.61204
seq distance
103
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
69.02978
seq distance
190
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
69.02978
seq distance
190
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.1404
seq distance
156
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.1404
seq distance
156
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.62441
seq distance
138
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.62441
seq distance
138
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.37759
seq distance
93
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.37759
seq distance
93
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.765625
seq distance
133
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.765625
seq distance
133
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.765625
seq distance
133
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.765625
seq distance
133
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
75.07902
seq distance
200
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
75.07902
seq distance
200
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.37425
seq distance
131
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.37425
seq distance
131
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.69214
seq distance
125
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.69214
seq distance
125
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.69214
seq distance
125
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.69214
seq distance
125
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.371376
seq distance
163
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.371376
seq distance
163
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.455666
seq distance
130
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.455666
seq distance
130
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.21385
seq distance
208
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.21385
seq distance
208
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
87.10009
seq distance
223
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
87.10009
seq distance
223
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
90.26085
seq distance
224
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
90.26085
seq distance
224
chain
U
Details
Redox score
76.53
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
77
Residue number B
92
Peptide name
Uromodulin
4wrn A 397 A 406
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
5.428241
seq distance
9
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
5.428241
seq distance
9
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
6.715053
seq distance
3
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
6.715053
seq distance
3
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
8.076611
seq distance
10
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
8.076611
seq distance
10
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
10.889145
seq distance
11
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
10.889145
seq distance
11
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
15.195801
seq distance
28
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
15.195801
seq distance
28
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
15.195801
seq distance
28
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
15.195801
seq distance
28
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
15.721342
seq distance
41
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
15.721342
seq distance
41
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
25.184135
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
25.184135
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
25.184135
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
25.184135
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
26.0321
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
26.0321
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
27.427162
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
27.427162
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
29.038889
seq distance
27
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
29.038889
seq distance
27
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.64141
seq distance
109
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.64141
seq distance
109
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.89807
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.89807
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
32.08203
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
32.08203
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
32.39306
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
32.39306
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
33.564465
seq distance
115
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
33.564465
seq distance
115
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
34.197243
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
34.197243
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
36.017754
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
36.017754
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
36.46031
seq distance
116
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
36.46031
seq distance
116
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
37.402016
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
37.402016
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
37.42662
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
37.42662
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
38.555687
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
38.555687
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
40.67952
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
40.67952
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
41.757053
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
41.757053
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
43.625393
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
43.625393
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
43.663662
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
43.663662
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
48.357826
seq distance
148
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
48.357826
seq distance
148
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
49.206192
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
49.206192
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
49.235767
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
49.235767
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
49.79421
seq distance
124
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
49.79421
seq distance
124
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
49.79421
seq distance
124
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
49.79421
seq distance
124
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
49.874912
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
49.874912
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
49.874912
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
49.874912
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
57.036434
seq distance
129
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
57.036434
seq distance
129
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
58.03025
seq distance
265
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
58.03025
seq distance
265
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
58.59076
seq distance
148
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
58.59076
seq distance
148
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
59.70851
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
59.70851
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
60.423363
seq distance
152
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
60.423363
seq distance
152
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
60.423363
seq distance
152
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
60.423363
seq distance
152
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
62.1969
seq distance
155
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
62.1969
seq distance
155
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
62.877872
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
62.877872
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
62.877872
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
62.877872
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
67.8369
seq distance
292
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
67.8369
seq distance
292
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
67.8369
seq distance
292
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
67.8369
seq distance
292
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
68.35999
seq distance
200
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
68.35999
seq distance
200
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
72.55026
seq distance
296
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
72.55026
seq distance
296
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
73.635666
seq distance
249
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
73.635666
seq distance
249
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
74.37446
seq distance
281
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
74.37446
seq distance
281
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
74.37446
seq distance
281
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
74.37446
seq distance
281
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
75.63183
seq distance
299
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
75.63183
seq distance
299
chain
A
Details
Redox score
76.52
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.03
Half-sphere exposure sum
72
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
297 (Residue 397 in this structure)
Residue number B
306 (Residue 406 in this structure)
Peptide name
Uromodulin
7q3n U 69 U 83
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.7811522
seq distance
0
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.7811522
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
5.8251905
seq distance
6
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
5.8251905
seq distance
6
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.468899
seq distance
5
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.468899
seq distance
5
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
8.760558
seq distance
10
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
8.760558
seq distance
10
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
14.499713
seq distance
20
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
14.499713
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.343662
seq distance
17
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.343662
seq distance
17
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.019936
seq distance
10
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.019936
seq distance
10
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
18.156528
seq distance
25
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
18.156528
seq distance
25
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
20.816034
seq distance
26
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
20.816034
seq distance
26
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
24.723083
seq distance
45
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
24.723083
seq distance
45
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
25.110792
seq distance
29
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
25.110792
seq distance
29
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
28.307825
seq distance
37
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
28.307825
seq distance
37
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
28.467451
seq distance
43
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
28.467451
seq distance
43
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
28.585394
seq distance
52
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
28.585394
seq distance
52
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.99411
seq distance
65
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.99411
seq distance
65
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.99411
seq distance
65
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.99411
seq distance
65
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
41.82541
seq distance
67
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
41.82541
seq distance
67
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
43.69346
seq distance
67
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
43.69346
seq distance
67
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
46.05718
seq distance
87
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
46.05718
seq distance
87
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
47.428787
seq distance
72
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
47.428787
seq distance
72
chain
U
D10C
begin
172
end
291
score
100.0
distance
52.107086
seq distance
89
chain
U
D10C
begin
172
end
291
score
100.0
distance
52.107086
seq distance
89
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
57.784595
seq distance
119
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
57.784595
seq distance
119
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
58.105988
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
58.105988
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
63.805496
seq distance
121
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
63.805496
seq distance
121
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
66.75062
seq distance
153
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
69.525734
seq distance
112
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
69.525734
seq distance
112
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
69.73927
seq distance
199
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
69.73927
seq distance
199
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
71.764694
seq distance
165
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
71.764694
seq distance
165
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
72.423775
seq distance
147
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
72.423775
seq distance
147
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
74.0181
seq distance
102
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
74.0181
seq distance
102
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
75.926186
seq distance
142
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
75.926186
seq distance
142
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
75.926186
seq distance
142
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
75.926186
seq distance
142
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
76.87565
seq distance
140
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
76.87565
seq distance
140
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
77.7747
seq distance
209
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
77.7747
seq distance
209
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
78.51903
seq distance
134
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
78.51903
seq distance
134
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
78.51903
seq distance
134
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
78.51903
seq distance
134
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
78.87785
seq distance
172
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
78.87785
seq distance
172
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
79.892555
seq distance
139
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
79.892555
seq distance
139
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
88.46864
seq distance
217
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
88.46864
seq distance
217
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
89.420364
seq distance
232
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
89.420364
seq distance
232
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
92.50452
seq distance
233
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
92.50452
seq distance
233
chain
U
Details
Redox score
76.24
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.02
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
69
Residue number B
83
Peptide name
Uromodulin
7q3n U 174 U 267
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
D10C
begin
172
end
291
score
100.0
distance
2.7806482
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.7806482
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
7.416871
seq distance
3
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
7.416871
seq distance
3
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
8.741905
seq distance
30
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
8.741905
seq distance
30
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
9.686621
seq distance
28
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
9.686621
seq distance
28
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
11.211069
seq distance
31
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.853838
seq distance
4
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
12.853838
seq distance
4
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
14.080357
seq distance
19
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
14.080357
seq distance
19
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
18.340078
seq distance
25
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
18.340078
seq distance
25
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
18.96273
seq distance
24
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
18.96273
seq distance
24
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
19.515217
seq distance
37
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
19.515217
seq distance
37
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
20.608444
seq distance
11
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
20.608444
seq distance
11
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
21.011599
seq distance
25
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
21.011599
seq distance
25
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
22.594133
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
22.594133
seq distance
19
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
23.120707
seq distance
26
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
23.120707
seq distance
26
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
23.120707
seq distance
26
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
23.120707
seq distance
26
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
24.224815
seq distance
44
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
24.224815
seq distance
44
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
24.775057
seq distance
43
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
24.775057
seq distance
43
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
24.775057
seq distance
43
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
24.775057
seq distance
43
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
25.490025
seq distance
21
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
25.490025
seq distance
21
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
26.993473
seq distance
42
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
26.993473
seq distance
42
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
26.993473
seq distance
42
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
26.993473
seq distance
42
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
27.422493
seq distance
45
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
27.422493
seq distance
45
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.336287
seq distance
15
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.336287
seq distance
15
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
29.189615
seq distance
12
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
29.189615
seq distance
12
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
29.972115
seq distance
54
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
29.972115
seq distance
54
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
30.02556
seq distance
33
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
30.02556
seq distance
33
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
30.217508
seq distance
48
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
30.217508
seq distance
48
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
30.357462
seq distance
39
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
30.357462
seq distance
39
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
30.404108
seq distance
48
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
30.404108
seq distance
48
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
33.551373
seq distance
49
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
33.551373
seq distance
49
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
34.261627
seq distance
62
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
34.261627
seq distance
62
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
36.206894
seq distance
46
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
36.206894
seq distance
46
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
41.000916
seq distance
77
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
41.000916
seq distance
77
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
41.000916
seq distance
67
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
41.000916
seq distance
67
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
42.074726
seq distance
65
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
42.074726
seq distance
65
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
56.917625
seq distance
71
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
56.917625
seq distance
71
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
57.294765
seq distance
97
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
57.294765
seq distance
97
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
60.48198
seq distance
110
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
60.48198
seq distance
110
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
65.5615
seq distance
122
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
65.5615
seq distance
122
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.85943
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.85943
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
72.94033
seq distance
115
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
72.94033
seq distance
115
chain
U
Details
Redox score
76.23
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
174
Residue number B
267
Peptide name
Uromodulin
4wrn B 627 B 682
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7592208
seq distance
0
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7592208
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7592208
seq distance
0
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7592208
seq distance
0
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
8.604259
seq distance
5
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
8.604259
seq distance
5
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
8.604259
seq distance
5
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
8.604259
seq distance
5
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
14.832553
seq distance
11
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
14.832553
seq distance
11
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
18.39483
seq distance
16
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
18.39483
seq distance
16
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
18.39483
seq distance
16
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
18.39483
seq distance
16
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
18.416601
seq distance
26
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
18.416601
seq distance
26
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
20.016321
seq distance
62
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
20.016321
seq distance
62
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
21.575638
seq distance
66
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
21.575638
seq distance
66
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
21.576437
seq distance
69
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
21.576437
seq distance
69
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
21.576437
seq distance
69
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
21.576437
seq distance
69
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
22.662155
seq distance
74
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
22.662155
seq distance
74
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
23.506449
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
23.506449
seq distance
False
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
23.506449
seq distance
False
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
23.506449
seq distance
False
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.093056
seq distance
False
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.093056
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
24.656216
seq distance
97
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
24.656216
seq distance
97
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
25.388887
seq distance
20
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
25.388887
seq distance
20
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
25.39995
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
25.39995
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
26.633707
seq distance
92
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
26.633707
seq distance
92
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
26.934313
seq distance
98
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
26.934313
seq distance
98
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
26.964346
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
26.964346
seq distance
False
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
27.980806
seq distance
23
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
27.980806
seq distance
23
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
29.376192
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
29.376192
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
29.376192
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
29.376192
seq distance
False
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
29.746725
seq distance
False
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
29.746725
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
29.992588
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
29.992588
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
32.839584
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
32.839584
seq distance
False
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.965363
seq distance
False
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
34.965363
seq distance
False
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.965363
seq distance
False
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
34.965363
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
38.106945
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
38.106945
seq distance
False
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.650883
seq distance
False
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
38.650883
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
42.432972
seq distance
194
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
42.432972
seq distance
194
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
42.969994
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
42.969994
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
43.06927
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
43.06927
seq distance
False
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
45.07867
seq distance
False
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
45.07867
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
46.97632
seq distance
105
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
46.97632
seq distance
105
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
48.44853
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
48.44853
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
50.06631
seq distance
106
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
50.06631
seq distance
106
chain
B
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
50.103355
seq distance
False
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
50.103355
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
50.37489
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
50.37489
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
51.929188
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
51.929188
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
52.301926
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
52.301926
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
53.86498
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
53.86498
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
54.10952
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
54.10952
seq distance
False
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
54.10952
seq distance
False
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
54.10952
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
54.618626
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
54.618626
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
56.08483
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
56.08483
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
56.22821
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
56.22821
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
58.506016
seq distance
180
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
58.506016
seq distance
180
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
62.76748
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
62.76748
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
66.918365
seq distance
112
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
66.918365
seq distance
112
chain
B
Details
Redox score
76.23
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.03
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
527 (Residue 627 in this structure)
Residue number B
582 (Residue 682 in this structure)
Peptide name
Uromodulin
7q3n U 150 U 161
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8263662
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8263662
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.867791
seq distance
9
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.867791
seq distance
9
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.124916
seq distance
1
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.124916
seq distance
1
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.8500314
seq distance
5
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.8500314
seq distance
5
chain
U
D10C
begin
172
end
291
score
100.0
distance
11.147672
seq distance
11
chain
U
D10C
begin
172
end
291
score
100.0
distance
11.147672
seq distance
11
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.744243
seq distance
41
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.744243
seq distance
41
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.147505
seq distance
15
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.147505
seq distance
15
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.808502
seq distance
30
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.808502
seq distance
30
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.977757
seq distance
24
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.977757
seq distance
24
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.53261
seq distance
43
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.53261
seq distance
43
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.01815
seq distance
38
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.01815
seq distance
38
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
23.257053
seq distance
75
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.667427
seq distance
22
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.667427
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.676798
seq distance
34
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.676798
seq distance
34
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.71242
seq distance
69
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.71242
seq distance
69
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.799593
seq distance
87
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.799593
seq distance
87
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
27.619593
seq distance
121
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
27.619593
seq distance
121
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.043636
seq distance
53
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.043636
seq distance
53
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.043636
seq distance
43
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.043636
seq distance
43
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.115774
seq distance
24
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.115774
seq distance
24
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.151653
seq distance
41
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.151653
seq distance
41
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.751404
seq distance
64
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.751404
seq distance
64
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.751404
seq distance
64
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.751404
seq distance
64
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.86511
seq distance
62
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.86511
seq distance
62
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.9042
seq distance
56
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.9042
seq distance
56
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.9042
seq distance
56
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.9042
seq distance
56
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.18574
seq distance
94
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.18574
seq distance
94
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.561176
seq distance
131
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.561176
seq distance
131
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.81536
seq distance
61
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.81536
seq distance
61
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
43.8684
seq distance
73
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
43.8684
seq distance
73
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.16641
seq distance
139
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.16641
seq distance
139
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.26303
seq distance
154
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.26303
seq distance
154
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.63667
seq distance
47
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.63667
seq distance
47
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.092567
seq distance
155
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.092567
seq distance
155
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.13768
seq distance
86
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.13768
seq distance
86
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.211185
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.211185
seq distance
98
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.64687
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.64687
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.845642
seq distance
91
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.845642
seq distance
91
chain
U
Details
Redox score
76.22
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.04
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
150
Residue number B
161
Peptide name
Uromodulin
7pfp A 195 A 282
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
2.8317733
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
2.8317733
seq distance
0
chain
A
D10C
begin
172
end
291
score
100.0
distance
2.8317733
seq distance
0
chain
A
D10C
begin
172
end
291
score
100.0
distance
2.8317733
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
2.8524196
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
2.8524196
seq distance
0
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
9.446716
seq distance
30
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
9.446716
seq distance
30
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
9.446716
seq distance
30
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
9.446716
seq distance
30
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.532199
seq distance
28
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.532199
seq distance
28
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
13.581832
seq distance
10
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
13.581832
seq distance
10
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
15.097416
seq distance
27
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
15.097416
seq distance
27
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
16.565556
seq distance
35
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
16.565556
seq distance
35
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
16.95731
seq distance
34
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
16.95731
seq distance
34
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.095442
seq distance
7
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.095442
seq distance
7
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.406286
seq distance
9
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.406286
seq distance
9
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
20.30325
seq distance
27
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
20.30325
seq distance
27
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
20.712858
seq distance
22
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
20.712858
seq distance
22
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
20.712858
seq distance
22
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
20.712858
seq distance
22
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
22.814116
seq distance
52
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
22.814116
seq distance
52
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
22.814116
seq distance
52
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
22.814116
seq distance
52
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
23.595762
seq distance
24
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
23.595762
seq distance
24
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
27.843122
seq distance
45
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
27.843122
seq distance
45
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
28.437351
seq distance
46
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
28.437351
seq distance
46
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
28.456219
seq distance
133
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
28.456219
seq distance
133
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
28.876144
seq distance
41
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
28.984509
seq distance
10
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
28.984509
seq distance
10
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.354116
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.354116
seq distance
25
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.431032
seq distance
40
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.431032
seq distance
40
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.98868
seq distance
47
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.98868
seq distance
47
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.98868
seq distance
47
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.98868
seq distance
47
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
32.156868
seq distance
18
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
32.156868
seq distance
18
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
32.388374
seq distance
33
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
32.388374
seq distance
33
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
32.916702
seq distance
65
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
32.916702
seq distance
65
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
33.431168
seq distance
34
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
33.431168
seq distance
34
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
36.271347
seq distance
35
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
36.271347
seq distance
35
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
39.059563
seq distance
139
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
39.059563
seq distance
139
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
40.4711
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
40.4711
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.958504
seq distance
60
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.958504
seq distance
60
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.14541
seq distance
75
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.14541
seq distance
75
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
43.219025
seq distance
51
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
43.219025
seq distance
51
chain
A
ZP
begin
448
end
583
score
102.35628342245991
distance
44.0791
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
44.0791
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.11823
seq distance
69
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.11823
seq distance
69
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
50.28808
seq distance
83
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
50.28808
seq distance
83
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
50.551956
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
50.551956
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.687355
seq distance
67
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.687355
seq distance
67
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
51.255802
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
51.255802
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
55.237507
seq distance
98
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
55.237507
seq distance
98
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
55.237507
seq distance
88
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
55.237507
seq distance
88
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
57.940437
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
57.940437
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
57.940437
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
57.940437
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.821598
seq distance
86
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.821598
seq distance
86
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
61.084595
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
61.084595
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
62.056915
seq distance
148
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
62.056915
seq distance
148
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
62.15219
seq distance
148
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
62.15219
seq distance
148
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
64.13266
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
64.13266
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.72058
seq distance
153
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.72058
seq distance
153
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
68.87079
seq distance
118
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
68.87079
seq distance
118
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
68.94082
seq distance
131
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
68.94082
seq distance
131
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
73.313705
seq distance
92
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
73.313705
seq distance
92
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
75.03361
seq distance
143
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
75.03361
seq distance
143
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
80.80707
seq distance
136
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
80.80707
seq distance
136
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
84.01615
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
84.01615
seq distance
False
chain
B
D10C
begin
172
end
291
score
100.0
distance
84.44408
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
84.44408
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
84.48405
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
84.48405
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
85.32281
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
85.32281
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
85.32281
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
85.32281
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
85.520485
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
85.520485
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
85.520485
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
85.520485
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
87.04381
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
87.04381
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
87.6203
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
87.6203
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
90.758995
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
90.758995
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
90.758995
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
90.758995
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
95.11259
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
95.11259
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
95.52079
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
95.52079
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
96.02705
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
96.02705
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
96.37148
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
96.37148
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
96.424225
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
96.424225
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
97.52455
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
97.52455
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
97.679985
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
97.679985
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
98.719124
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
98.719124
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
99.167496
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
99.167496
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
99.5204
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
99.5204
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
99.876015
seq distance
172
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
99.876015
seq distance
172
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.22675
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.22675
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.22675
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.22675
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
100.3355
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
100.3355
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
100.3355
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
100.3355
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
100.41338
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
100.41338
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
104.02605
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
104.02605
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
105.37889
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
105.37889
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
105.81796
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
105.81796
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
106.43464
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
106.43464
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
107.405655
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
107.405655
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
107.60352
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
107.60352
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
108.31859
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
108.31859
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
108.409615
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
108.409615
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
109.16621
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
109.16621
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
109.91835
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
109.91835
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
111.091934
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
111.091934
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.846275
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.89892
seq distance
172
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.89892
seq distance
172
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
111.91803
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
111.91803
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.043594
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.043594
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.771095
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.771095
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.912964
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.912964
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
113.132904
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
113.132904
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
113.18711
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
113.18711
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
115.4008
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
115.4008
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
115.94718
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
115.94718
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
115.94718
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
115.94718
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
116.565216
seq distance
176
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
116.565216
seq distance
176
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
116.565216
seq distance
176
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
116.565216
seq distance
176
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
118.27179
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
118.27179
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
118.40963
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
118.40963
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
118.96364
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
118.96364
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
120.62514
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
120.62514
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
122.8457
seq distance
179
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
122.8457
seq distance
179
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
123.54933
seq distance
304
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
123.54933
seq distance
304
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
123.54933
seq distance
304
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
123.54933
seq distance
304
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
126.70741
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
126.70741
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
127.9052
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
127.9052
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
140.23907
seq distance
273
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
140.23907
seq distance
273
chain
A
Details
Redox score
76.13
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
44
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
195
Residue number B
282
Peptide name
Uromodulin
7q3n U 217 U 255
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.7731614
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
6.643409
seq distance
7
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
6.643409
seq distance
7
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.9117346
seq distance
13
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.9117346
seq distance
13
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
10.751944
seq distance
5
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
10.751944
seq distance
5
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.423424
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.423424
seq distance
6
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
13.779771
seq distance
8
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
13.779771
seq distance
8
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
13.779771
seq distance
8
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
13.779771
seq distance
8
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
14.9786825
seq distance
32
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
14.9786825
seq distance
32
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.250904
seq distance
37
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.250904
seq distance
37
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
27
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
27
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
22
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
20.361626
seq distance
60
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
20.361626
seq distance
60
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.626558
seq distance
61
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.626558
seq distance
61
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.99224
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.736322
seq distance
13
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.736322
seq distance
13
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
24.22839
seq distance
15
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
24.22839
seq distance
15
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.259699
seq distance
45
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.259699
seq distance
45
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
27.948408
seq distance
46
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
27.948408
seq distance
46
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
33.185978
seq distance
62
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
33.185978
seq distance
62
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
34.853565
seq distance
67
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
34.853565
seq distance
67
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.857822
seq distance
47
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
34.857822
seq distance
47
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
37.263836
seq distance
68
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
37.263836
seq distance
68
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
40.551792
seq distance
69
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
40.551792
seq distance
69
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
40.551792
seq distance
69
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
40.551792
seq distance
69
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
50.610214
seq distance
82
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
50.610214
seq distance
82
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
51.75412
seq distance
97
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
51.75412
seq distance
97
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
52.3455
seq distance
91
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
52.3455
seq distance
91
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
57.230614
seq distance
89
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
57.230614
seq distance
89
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
57.49153
seq distance
105
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
57.49153
seq distance
105
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
62.19599
seq distance
120
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
62.19599
seq distance
120
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
62.19599
seq distance
110
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
62.19599
seq distance
110
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
65.14166
seq distance
108
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
65.14166
seq distance
108
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.259476
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.259476
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
78.14869
seq distance
140
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
78.14869
seq distance
140
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
80.056564
seq distance
114
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
80.056564
seq distance
114
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
81.563156
seq distance
153
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
81.563156
seq distance
153
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
87.65064
seq distance
165
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
87.65064
seq distance
165
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
94.08461
seq distance
158
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
94.08461
seq distance
158
chain
U
Details
Redox score
76.13
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
2.03
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
217
Residue number B
255
Peptide name
Uromodulin
4wrn A 417 A 447
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.8286934
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
8.258568
seq distance
2
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
8.258568
seq distance
2
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
9.090718
seq distance
17
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
9.090718
seq distance
17
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
68
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
68
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
31.118477
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
31.118477
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.9032
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.9032
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
33.843315
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
33.843315
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.81663
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.81663
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
36.99949
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
36.99949
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
39.90029
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
39.90029
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
41.70388
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
41.70388
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
42.9166
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
42.9166
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
46.639168
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
46.639168
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
48.40674
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
48.40674
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
49.29882
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
49.29882
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
49.29882
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
49.29882
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
50.532467
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
50.532467
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.45413
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.45413
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
60.06115
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
60.06115
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
60.06115
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
60.06115
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Details
Redox score
76.12
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.03
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
317 (Residue 417 in this structure)
Residue number B
347 (Residue 447 in this structure)
Peptide name
Uromodulin
7pfp A 248 A 256
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
D10C
begin
172
end
291
score
100.0
distance
2.8205166
seq distance
0
chain
A
D10C
begin
172
end
291
score
100.0
distance
2.8205166
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8576572
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8576572
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
6.310633
seq distance
1
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
6.310633
seq distance
1
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
6.96161
seq distance
18
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
6.96161
seq distance
18
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
8.070874
seq distance
31
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
8.070874
seq distance
31
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
8.070874
seq distance
31
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
8.070874
seq distance
31
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
16.16614
seq distance
26
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
16.16614
seq distance
26
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
16.221779
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
16.221779
seq distance
25
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
16.879766
seq distance
12
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
16.956802
seq distance
23
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
16.956802
seq distance
23
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
16.956802
seq distance
23
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
16.956802
seq distance
23
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
18.088024
seq distance
63
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
18.088024
seq distance
63
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.130745
seq distance
26
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.130745
seq distance
26
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.176102
seq distance
53
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.176102
seq distance
53
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.363693
seq distance
46
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.363693
seq distance
46
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.582512
seq distance
44
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.582512
seq distance
44
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
20.86956
seq distance
36
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
20.86956
seq distance
36
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
22.2923
seq distance
77
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
22.2923
seq distance
77
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
24.950983
seq distance
78
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
24.950983
seq distance
78
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
24.950983
seq distance
78
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
24.950983
seq distance
78
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
26.186192
seq distance
59
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
26.186192
seq distance
59
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
27.077185
seq distance
60
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
27.077185
seq distance
60
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.499025
seq distance
93
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.499025
seq distance
93
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.115353
seq distance
98
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.115353
seq distance
98
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.768587
seq distance
78
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.768587
seq distance
78
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
29.853746
seq distance
44
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
29.853746
seq distance
44
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
29.904099
seq distance
99
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
29.904099
seq distance
99
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
30.365673
seq distance
61
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
30.365673
seq distance
61
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
30.627445
seq distance
91
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
30.627445
seq distance
91
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
31.787111
seq distance
159
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
31.787111
seq distance
159
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
34.847996
seq distance
100
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
34.847996
seq distance
100
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
34.847996
seq distance
100
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
34.847996
seq distance
100
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
42.570347
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
42.570347
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
43.236984
seq distance
165
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
43.236984
seq distance
165
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
43.710716
seq distance
113
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
43.710716
seq distance
113
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
45.25387
seq distance
128
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
45.25387
seq distance
128
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.73206
seq distance
122
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.73206
seq distance
122
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
46.235924
seq distance
77
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
46.235924
seq distance
77
chain
A
ZP
begin
448
end
583
score
102.35628342245991
distance
46.282063
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
46.282063
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.74995
seq distance
120
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.74995
seq distance
120
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.04941
seq distance
136
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.04941
seq distance
136
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
56.095177
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
56.095177
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
56.095177
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
56.095177
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.553276
seq distance
151
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.553276
seq distance
151
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.553276
seq distance
141
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.553276
seq distance
141
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.61401
seq distance
139
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.61401
seq distance
139
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
65.140114
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
65.140114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
65.140114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
65.140114
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
67.73838
seq distance
174
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
67.73838
seq distance
174
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
68.37609
seq distance
174
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
68.37609
seq distance
174
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
70.35686
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
70.35686
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
71.78102
seq distance
171
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
71.78102
seq distance
171
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
72.12196
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
72.12196
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
72.95225
seq distance
179
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
72.95225
seq distance
179
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.276726
seq distance
145
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.276726
seq distance
145
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
75.49998
seq distance
184
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
75.49998
seq distance
184
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.32634
seq distance
196
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.32634
seq distance
196
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.16358
seq distance
189
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.16358
seq distance
189
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
89.6648
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
89.6648
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
91.94122
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
91.94122
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
91.94122
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
91.94122
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
92.780685
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
92.780685
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
92.780685
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
92.780685
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
94.38253
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
94.38253
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
94.63229
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
94.63229
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
94.63229
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
94.63229
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.06187
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.06187
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.27335
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.27335
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.27335
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.27335
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
98.716736
seq distance
198
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
98.716736
seq distance
198
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
102.70311
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
102.70311
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
103.31134
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
103.31134
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
103.33811
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
103.33811
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
103.3678
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
103.3678
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
104.578384
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
104.578384
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.63682
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.63682
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
106.308495
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
106.308495
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
106.47354
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
106.47354
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.15727
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.15727
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
108.33694
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
108.33694
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
108.759895
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
108.759895
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
109.16323
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
109.16323
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
109.16323
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
109.16323
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
109.49548
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
109.49548
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
109.49548
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
109.49548
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
111.26665
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
111.26665
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
112.06462
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
112.06462
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
113.50804
seq distance
198
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
113.50804
seq distance
198
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
113.63865
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
113.63865
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
113.83876
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
113.83876
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
113.8508
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
113.8508
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
114.87715
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
114.87715
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
115.289345
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
115.289345
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
115.33668
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
115.33668
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
115.57342
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
115.57342
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
116.25022
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
116.25022
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
116.25022
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
116.25022
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
116.486465
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
116.486465
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
116.5652
seq distance
202
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
116.5652
seq distance
202
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
116.5652
seq distance
202
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
116.5652
seq distance
202
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
118.559105
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
118.559105
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
119.01622
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
119.01622
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
119.47879
seq distance
330
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
119.47879
seq distance
330
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
119.47879
seq distance
330
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
119.47879
seq distance
330
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
119.75955
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
119.75955
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
119.84936
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
119.84936
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
119.90626
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
119.90626
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
120.587715
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
120.587715
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.17015
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
121.61686
seq distance
205
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
121.61686
seq distance
205
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
122.34527
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
122.34527
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
123.07326
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
123.07326
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
123.732864
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
123.732864
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
123.82814
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
123.82814
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
126.12907
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
126.12907
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
126.331245
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
126.331245
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
129.32253
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
129.32253
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
135.95337
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
135.95337
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
138.33287
seq distance
299
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
138.33287
seq distance
299
chain
A
Details
Redox score
76.04
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
58
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
248
Residue number B
256
Peptide name
Uromodulin
7pfp A 223 A 287
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
2.788319
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
2.788319
seq distance
0
chain
A
D10C
begin
172
end
291
score
100.0
distance
2.788319
seq distance
0
chain
A
D10C
begin
172
end
291
score
100.0
distance
2.788319
seq distance
0
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
4.5604405
seq distance
1
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
4.5604405
seq distance
1
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.722372
seq distance
38
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.722372
seq distance
38
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.880424
seq distance
7
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.880424
seq distance
7
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
6.9442115
seq distance
2
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
6.9442115
seq distance
2
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
6.9442115
seq distance
2
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
6.9442115
seq distance
2
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
8.700576
seq distance
6
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
8.700576
seq distance
6
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
8.700576
seq distance
6
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
8.700576
seq distance
6
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
10.179765
seq distance
25
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
10.179765
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.055572
seq distance
28
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.055572
seq distance
28
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
12.521417
seq distance
32
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
12.521417
seq distance
32
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
13.98665
seq distance
5
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
13.98665
seq distance
5
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
14.473579
seq distance
47
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
14.473579
seq distance
47
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
14.473579
seq distance
47
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
14.473579
seq distance
47
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
14.933852
seq distance
19
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
14.933852
seq distance
19
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
16.009487
seq distance
5
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
16.009487
seq distance
5
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
17.788143
seq distance
21
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
17.788143
seq distance
21
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
18.186796
seq distance
28
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
18.186796
seq distance
28
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
19.313812
seq distance
29
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
19.313812
seq distance
29
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
19.375607
seq distance
13
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
19.375607
seq distance
13
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.789042
seq distance
13
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
20.64736
seq distance
60
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
20.64736
seq distance
60
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
22.485546
seq distance
30
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
22.485546
seq distance
30
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
25.278145
seq distance
52
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
25.278145
seq distance
52
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.456415
seq distance
128
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.456415
seq distance
128
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.479908
seq distance
53
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.479908
seq distance
53
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.570847
seq distance
68
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.570847
seq distance
68
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
31.3945
seq distance
73
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
31.3945
seq distance
73
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
32.574337
seq distance
134
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
32.574337
seq distance
134
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.43786
seq distance
74
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.43786
seq distance
74
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
34.374424
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
34.374424
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
34.477623
seq distance
46
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
34.477623
seq distance
46
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.42859
seq distance
75
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.42859
seq distance
75
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.42859
seq distance
75
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.42859
seq distance
75
chain
A
ZP
begin
448
end
583
score
102.35628342245991
distance
36.788162
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
36.788162
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
43.756268
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
43.756268
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
43.756268
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
43.756268
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
46.160805
seq distance
88
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
46.160805
seq distance
88
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.34646
seq distance
103
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.34646
seq distance
103
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
48.161324
seq distance
97
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
48.161324
seq distance
97
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
51.925472
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
51.925472
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
51.925472
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
51.925472
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
53.122017
seq distance
111
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
53.122017
seq distance
111
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.003204
seq distance
95
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.003204
seq distance
95
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
55.147892
seq distance
143
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
55.147892
seq distance
143
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
55.83593
seq distance
143
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
55.83593
seq distance
143
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
57.447933
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
57.447933
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
58.67381
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
58.67381
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.682003
seq distance
126
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.682003
seq distance
126
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.682003
seq distance
116
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.682003
seq distance
116
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
59.90192
seq distance
148
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
59.90192
seq distance
148
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
61.558224
seq distance
114
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
61.558224
seq distance
114
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
74.37131
seq distance
146
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
74.37131
seq distance
146
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.2446
seq distance
159
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.2446
seq distance
159
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
76.87145
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
76.87145
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.062256
seq distance
120
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.062256
seq distance
120
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
78.97794
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
78.97794
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
78.97794
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
78.97794
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.18278
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.18278
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
80.18278
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
80.18278
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
81.168625
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
81.168625
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
81.58328
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
81.58328
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
81.58328
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
81.58328
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.28335
seq distance
171
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.28335
seq distance
171
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
82.65544
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
82.65544
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.55923
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.55923
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.55923
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.55923
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.56741
seq distance
164
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.56741
seq distance
164
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
88.643875
seq distance
167
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
88.643875
seq distance
167
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.8455
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.8455
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
90.689644
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
90.689644
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
90.88297
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
90.88297
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.14574
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.14574
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.37744
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.37744
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
92.79503
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
92.79503
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
93.35642
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
93.35642
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
95.32785
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
95.32785
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
95.49971
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
95.49971
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
96.38631
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
96.38631
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
96.38631
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
96.38631
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
96.454124
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
96.454124
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
97.48419
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
97.48419
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
98.44183
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
98.44183
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
98.44183
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
98.44183
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
99.2711
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
99.2711
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
99.95275
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
99.95275
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.848434
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.848434
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
102.48406
seq distance
167
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
102.48406
seq distance
167
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
102.553925
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
102.553925
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
103.34609
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
103.34609
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
103.72234
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
103.72234
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
105.2945
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
105.2945
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
105.53894
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
105.53894
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
105.53894
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
105.53894
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
105.74478
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
105.74478
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
106.01602
seq distance
171
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
106.01602
seq distance
171
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
106.01602
seq distance
171
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
106.01602
seq distance
171
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
106.093544
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
106.093544
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
106.12442
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
106.12442
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
106.970604
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
106.970604
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.01037
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.01037
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
107.85183
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
107.85183
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
108.65463
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
109.32439
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
109.32439
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
109.83031
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
109.83031
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
111.1531
seq distance
299
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
111.1531
seq distance
299
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
111.1531
seq distance
299
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
111.1531
seq distance
299
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
111.68791
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
111.68791
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
111.72501
seq distance
174
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
111.72501
seq distance
174
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
112.66686
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
112.66686
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
114.089554
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
114.089554
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
115.889915
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
115.889915
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
117.21659
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
117.21659
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
118.6364
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
118.6364
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
118.83124
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
118.83124
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
120.11067
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
120.11067
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
128.03989
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
128.03989
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
128.77594
seq distance
268
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
128.77594
seq distance
268
chain
A
Details
Redox score
75.05
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
2.03
Half-sphere exposure sum
88
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
223
Residue number B
287
Peptide name
Uromodulin
7q3n U 35 U 41
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8119786
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8119786
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.55846
seq distance
11
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.55846
seq distance
11
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
11.922547
seq distance
18
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
11.922547
seq distance
18
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.806349
seq distance
24
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.806349
seq distance
24
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.16406
seq distance
36
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.16406
seq distance
36
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.824842
seq distance
52
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.824842
seq distance
52
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.94943
seq distance
62
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.94943
seq distance
62
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.724968
seq distance
67
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.724968
seq distance
67
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
37.873005
seq distance
68
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
37.873005
seq distance
68
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
39.867935
seq distance
71
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
39.867935
seq distance
71
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.436756
seq distance
79
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.436756
seq distance
79
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.476364
seq distance
87
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.476364
seq distance
87
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.168827
seq distance
85
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.168827
seq distance
85
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.87711
seq distance
94
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.87711
seq distance
94
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.86475
seq distance
109
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.86475
seq distance
109
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.39002
seq distance
107
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.932243
seq distance
129
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.932243
seq distance
129
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.941174
seq distance
109
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.941174
seq distance
109
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.59232
seq distance
114
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.59232
seq distance
114
chain
U
D10C
begin
172
end
291
score
100.0
distance
62.24579
seq distance
131
chain
U
D10C
begin
172
end
291
score
100.0
distance
62.24579
seq distance
131
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.78899
seq distance
161
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.78899
seq distance
161
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.25727
seq distance
163
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.25727
seq distance
163
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
79.00064
seq distance
195
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
79.02933
seq distance
154
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
79.02933
seq distance
154
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.470116
seq distance
241
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
80.470116
seq distance
241
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
81.19456
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
81.19456
seq distance
False
chain
F
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.522484
seq distance
144
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.522484
seq distance
144
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.13001
seq distance
189
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.13001
seq distance
189
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.84256
seq distance
251
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.84256
seq distance
251
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.957565
seq distance
207
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.957565
seq distance
207
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.37814
seq distance
184
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.37814
seq distance
184
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.37814
seq distance
184
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.37814
seq distance
184
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.954445
seq distance
182
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.954445
seq distance
182
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.43579
seq distance
181
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.43579
seq distance
181
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.522224
seq distance
176
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.522224
seq distance
176
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.522224
seq distance
176
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.522224
seq distance
176
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.117836
seq distance
214
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.117836
seq distance
214
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.77724
seq distance
259
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.77724
seq distance
259
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.45369
seq distance
274
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.45369
seq distance
274
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.847336
seq distance
275
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.847336
seq distance
275
chain
U
Details
Redox score
74.1
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
4.06
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
35
Residue number B
41
Peptide name
Uromodulin
4wrn A 606 A 666
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7778208
seq distance
0
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
2.7778208
seq distance
0
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
2.7778208
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7778208
seq distance
0
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
2.7778208
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.7778208
seq distance
0
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
6.8023148
seq distance
32
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
6.8023148
seq distance
32
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
6.8023148
seq distance
32
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
6.8023148
seq distance
32
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
7.1651373
seq distance
41
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
7.1651373
seq distance
41
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
9.107441
seq distance
45
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
9.107441
seq distance
45
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
10.35891
seq distance
53
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
10.35891
seq distance
53
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
10.924607
seq distance
48
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
10.924607
seq distance
48
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
10.924607
seq distance
48
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
10.924607
seq distance
48
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
11.693009
seq distance
36
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
11.693009
seq distance
36
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
14.402895
seq distance
10
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
14.402895
seq distance
10
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
15.027921
seq distance
5
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
15.027921
seq distance
5
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
15.631868
seq distance
21
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
15.631868
seq distance
21
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
15.631868
seq distance
21
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
15.631868
seq distance
21
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
16.855043
seq distance
71
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
16.855043
seq distance
71
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
16.997776
seq distance
77
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
16.997776
seq distance
77
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
17.118967
seq distance
39
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
17.118967
seq distance
39
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.730444
seq distance
76
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
17.730444
seq distance
76
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.314594
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
24.314594
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
24.314594
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
24.314594
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
24.859562
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
24.859562
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
31.772114
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
31.772114
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
31.972399
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
31.972399
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
33.09396
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
33.09396
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
33.09396
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
33.09396
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
35.07005
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
35.07005
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
37.990276
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
37.990276
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
37.990276
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
37.990276
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
39.00954
seq distance
173
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
39.00954
seq distance
173
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
39.248234
seq distance
84
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
39.248234
seq distance
84
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
39.781235
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
39.781235
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
39.86334
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
39.86334
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
41.710625
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
41.710625
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
42.545307
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
42.545307
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
42.76195
seq distance
85
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
42.76195
seq distance
85
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
42.89594
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
42.89594
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
45.204117
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
45.204117
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
45.204117
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
45.204117
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
48.405033
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
48.405033
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
48.405033
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
48.405033
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
52.63944
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
52.63944
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
54.11638
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
54.11638
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
54.30112
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
54.30112
seq distance
False
chain
B
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
56.29336
seq distance
183
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
56.29336
seq distance
183
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
57.067963
seq distance
159
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
57.067963
seq distance
159
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
57.63875
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
57.63875
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
59.126198
seq distance
206
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
59.126198
seq distance
206
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
60.971767
seq distance
91
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
60.971767
seq distance
91
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
61.35276
seq distance
189
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
61.35276
seq distance
189
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
63.28124
seq distance
191
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
63.28124
seq distance
191
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
63.57596
seq distance
190
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
63.57596
seq distance
190
chain
A
Details
Redox score
74.05
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
2.04
Half-sphere exposure sum
96
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
506 (Residue 606 in this structure)
Residue number B
566 (Residue 666 in this structure)
Peptide name
Uromodulin
4wrn A 400 A 406
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
9
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
9
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
10
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
10
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.705953
seq distance
11
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.705953
seq distance
11
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
11.172564
seq distance
28
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
11.172564
seq distance
28
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
11.172564
seq distance
28
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
11.172564
seq distance
28
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.733646
seq distance
41
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.733646
seq distance
41
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
21.714779
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
21.714779
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.714779
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.714779
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
25.07441
seq distance
27
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
25.07441
seq distance
27
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.4678
seq distance
109
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.4678
seq distance
109
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.956917
seq distance
115
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.956917
seq distance
115
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.13585
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.13585
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.722225
seq distance
116
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.722225
seq distance
116
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
148
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
148
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.778427
seq distance
124
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.778427
seq distance
124
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.778427
seq distance
124
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.778427
seq distance
124
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.987617
seq distance
129
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.987617
seq distance
129
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.703445
seq distance
265
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.703445
seq distance
265
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.9728
seq distance
148
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.9728
seq distance
148
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.598076
seq distance
152
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.598076
seq distance
152
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.598076
seq distance
152
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.598076
seq distance
152
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
58.181335
seq distance
155
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
58.181335
seq distance
155
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.95484
seq distance
292
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.95484
seq distance
292
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.95484
seq distance
292
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.95484
seq distance
292
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.52196
seq distance
200
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.52196
seq distance
200
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
68.52225
seq distance
296
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
68.52225
seq distance
296
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.72546
seq distance
249
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.72546
seq distance
249
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
281
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
281
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
281
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
281
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
71.564125
seq distance
299
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
71.564125
seq distance
299
chain
A
Details
Redox score
73.33
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
4.1
Half-sphere exposure sum
67
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
300 (Residue 400 in this structure)
Residue number B
306 (Residue 406 in this structure)
Peptide name
Uromodulin
7pfp C 150 C 155
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8271046
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8271046
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8271046
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8271046
seq distance
0
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.837129
seq distance
0
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.837129
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.6390023
seq distance
15
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.6390023
seq distance
15
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.162434
seq distance
1
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.162434
seq distance
1
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.4140625
seq distance
2
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.4140625
seq distance
2
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.4140625
seq distance
2
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.4140625
seq distance
2
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.513134
seq distance
17
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.513134
seq distance
17
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
13.285973
seq distance
47
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
13.285973
seq distance
47
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
15.727326
seq distance
15
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
15.727326
seq distance
15
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.172928
seq distance
30
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.172928
seq distance
30
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.940554
seq distance
24
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.940554
seq distance
24
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.167288
seq distance
49
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.167288
seq distance
49
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387806
seq distance
81
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.152317
seq distance
38
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.152317
seq distance
38
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.81661
seq distance
22
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.81661
seq distance
22
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.554115
seq distance
75
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.554115
seq distance
75
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.726013
seq distance
93
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.726013
seq distance
93
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.269873
seq distance
40
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.269873
seq distance
40
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.850153
seq distance
127
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.850153
seq distance
127
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.154535
seq distance
53
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.154535
seq distance
53
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
29.154535
seq distance
43
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
29.154535
seq distance
43
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.966518
seq distance
30
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.966518
seq distance
30
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.613228
seq distance
41
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.613228
seq distance
41
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
32.21625
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
32.21625
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
32.21625
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
32.21625
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
32.549625
seq distance
68
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
32.549625
seq distance
68
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986526
seq distance
62
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986526
seq distance
62
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986526
seq distance
62
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986526
seq distance
62
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.0871
seq distance
70
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.0871
seq distance
70
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.0871
seq distance
70
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.0871
seq distance
70
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
33.48188
seq distance
137
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
33.48188
seq distance
137
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.39628
seq distance
100
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.39628
seq distance
100
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
35.126385
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
35.126385
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
35.126385
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
35.126385
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
35.518696
seq distance
67
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
35.518696
seq distance
67
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
42.899014
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
42.899014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
42.899014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
42.899014
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45571
seq distance
160
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45571
seq distance
160
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812084
seq distance
145
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812084
seq distance
145
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.19936
seq distance
73
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.19936
seq distance
73
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
45.628094
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
45.628094
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
45.73573
seq distance
179
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
45.73573
seq distance
179
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
45.73573
seq distance
179
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
45.73573
seq distance
179
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.255493
seq distance
161
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.255493
seq distance
161
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
46.512615
seq distance
86
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
46.512615
seq distance
86
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
46.62264
seq distance
47
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
46.62264
seq distance
47
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
49.08068
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
49.08068
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
49.08068
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
49.08068
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.03331
seq distance
162
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.03331
seq distance
162
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.39043
seq distance
192
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.39043
seq distance
192
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.104897
seq distance
98
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.104897
seq distance
98
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.257732
seq distance
260
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.257732
seq distance
260
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
55.591183
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
55.591183
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
57.749344
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
57.749344
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
57.749344
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
57.749344
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
57.749344
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
57.749344
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
59.14918
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
59.14918
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.195538
seq distance
91
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.195538
seq distance
91
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
59.319405
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
59.319405
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
60.98109
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
60.98109
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.41294
seq distance
266
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.41294
seq distance
266
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.841602
seq distance
178
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.841602
seq distance
178
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.061806
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.061806
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
67.64098
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
67.64098
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
70.83479
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
70.83479
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
71.94859
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
71.94859
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.035324
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
79.73327
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
79.73327
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
80.98127
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
80.98127
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
82.13059
seq distance
275
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
82.13059
seq distance
275
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
83.1157
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
83.1157
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.43392
seq distance
275
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.43392
seq distance
275
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
83.62398
seq distance
280
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
83.62398
seq distance
280
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
83.645905
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
83.645905
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.45612
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.45612
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
88.85529
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
88.85529
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
91.02333
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
91.02333
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
91.33511
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
91.33511
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
93.71064
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
93.71064
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
94.829285
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
94.829285
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
96.40149
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
96.40149
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
96.40149
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
96.40149
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
96.67146
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
96.67146
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
98.30261
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
98.30261
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
100.408676
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
100.408676
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
100.53295
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
100.53295
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
102.17875
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
102.17875
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
103.01124
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
103.01124
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
103.01124
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
103.01124
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
104.27975
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
104.27975
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
106.048676
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
106.048676
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.071724
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.071724
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.071724
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.071724
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
108.62879
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
108.62879
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
109.73869
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
109.73869
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
114.38089
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
114.38089
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
118.214424
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
121.36524
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
121.36524
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
127.07978
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
127.07978
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
128.33905
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
128.33905
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
128.73654
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
128.73654
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
129.38515
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
129.38515
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
131.7582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
131.7582
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
131.7582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
131.7582
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
139.96423
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
139.96423
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
141.52998
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
141.52998
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
143.94331
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
143.94331
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
148.0609
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
148.0609
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
150.18906
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
150.18906
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
154.28914
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
154.28914
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
154.28914
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
154.28914
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
157.11317
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
157.11317
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
158.98976
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
158.98976
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
166.41698
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
166.41698
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
166.67728
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
166.67728
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
170.8397
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
170.8397
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
172.4347
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
172.4347
seq distance
False
chain
A
Details
Redox score
73.33
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
4.4
Half-sphere exposure sum
58
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
150
Residue number B
155
Peptide name
Uromodulin
7q3n U 150 U 170
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.832412
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.832412
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.832412
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.832412
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.8698103
seq distance
5
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.8698103
seq distance
5
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.124916
seq distance
1
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.124916
seq distance
1
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
6.5940847
seq distance
2
chain
U
D10C
begin
172
end
291
score
100.0
distance
9.070987
seq distance
2
chain
U
D10C
begin
172
end
291
score
100.0
distance
9.070987
seq distance
2
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.507955
seq distance
32
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.507955
seq distance
32
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.147505
seq distance
15
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.147505
seq distance
15
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.808502
seq distance
30
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
16.808502
seq distance
30
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.780264
seq distance
24
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.780264
seq distance
24
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.531832
seq distance
34
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.531832
seq distance
34
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.640121
seq distance
38
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.640121
seq distance
38
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.419632
seq distance
22
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.419632
seq distance
22
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.043636
seq distance
53
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.043636
seq distance
53
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.043636
seq distance
43
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.043636
seq distance
43
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.339785
seq distance
60
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.339785
seq distance
60
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.502728
seq distance
78
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.502728
seq distance
78
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.711266
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.711266
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.615238
seq distance
112
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.615238
seq distance
112
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.599508
seq distance
41
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.599508
seq distance
41
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.022364
seq distance
15
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.022364
seq distance
15
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.76342
seq distance
55
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.76342
seq distance
55
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.76342
seq distance
55
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.76342
seq distance
55
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.811092
seq distance
53
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.811092
seq distance
53
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.17757
seq distance
122
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.17757
seq distance
122
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.32638
seq distance
47
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.32638
seq distance
47
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.32638
seq distance
47
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.32638
seq distance
47
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.90837
seq distance
85
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.90837
seq distance
85
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.76365
seq distance
52
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.76365
seq distance
52
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
43.8684
seq distance
73
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
43.8684
seq distance
73
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.818394
seq distance
145
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.818394
seq distance
145
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.896877
seq distance
130
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.896877
seq distance
130
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.478836
seq distance
47
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.478836
seq distance
47
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.13768
seq distance
86
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
47.13768
seq distance
86
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.79907
seq distance
146
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.79907
seq distance
146
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.211185
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
53.211185
seq distance
98
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.64687
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
54.64687
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.845642
seq distance
91
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
59.845642
seq distance
91
chain
U
Details
Redox score
73.31
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
4
Half-sphere exposure sum
61
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
150
Residue number B
170
Peptide name
Uromodulin
7pfp A 120 A 126
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.8075025
seq distance
0
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.8075025
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8075025
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8075025
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8509798
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8509798
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.4785626
seq distance
9
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.4785626
seq distance
9
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
3.6915462
seq distance
8
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
3.6915462
seq distance
8
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
5.3025775
seq distance
2
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
5.3025775
seq distance
2
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
9.7192135
seq distance
23
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
9.7192135
seq distance
23
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.7192135
seq distance
13
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.7192135
seq distance
13
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.614653
seq distance
11
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.614653
seq distance
11
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.725509
seq distance
22
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.725509
seq distance
22
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.725509
seq distance
22
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.725509
seq distance
22
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
16.137907
seq distance
24
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
16.137907
seq distance
24
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.001066
seq distance
24
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.001066
seq distance
24
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.75202
seq distance
44
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.75202
seq distance
44
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.133957
seq distance
29
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.133957
seq distance
29
chain
A
D10C
begin
172
end
291
score
100.0
distance
23.875835
seq distance
46
chain
A
D10C
begin
172
end
291
score
100.0
distance
23.875835
seq distance
46
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
24.627167
seq distance
43
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
24.627167
seq distance
43
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
26.398478
seq distance
17
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
26.398478
seq distance
17
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.239937
seq distance
76
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.239937
seq distance
76
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.292114
seq distance
56
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.292114
seq distance
56
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
35.978657
seq distance
78
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
35.978657
seq distance
78
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.84829
seq distance
68
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.84829
seq distance
68
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.40542
seq distance
110
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.841972
seq distance
61
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.841972
seq distance
61
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.2633
seq distance
69
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.2633
seq distance
69
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.779312
seq distance
156
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.779312
seq distance
156
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.811966
seq distance
122
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.811966
seq distance
122
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.978905
seq distance
104
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.978905
seq distance
104
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.98028
seq distance
59
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.98028
seq distance
59
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.789635
seq distance
99
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.789635
seq distance
99
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.789635
seq distance
99
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.789635
seq distance
99
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.93435
seq distance
97
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.93435
seq distance
97
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
50.21155
seq distance
166
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
50.21155
seq distance
166
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.518757
seq distance
91
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.518757
seq distance
91
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.518757
seq distance
91
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.518757
seq distance
91
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.404316
seq distance
129
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.404316
seq distance
129
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.071934
seq distance
96
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.071934
seq distance
96
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.013
seq distance
174
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.013
seq distance
174
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.459908
seq distance
189
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.459908
seq distance
189
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
63.0457
seq distance
208
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
63.0457
seq distance
208
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
63.0457
seq distance
208
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
63.0457
seq distance
208
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.43154
seq distance
190
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.43154
seq distance
190
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.177315
seq distance
191
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.177315
seq distance
191
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.22591
seq distance
221
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.22591
seq distance
221
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
72.06365
seq distance
289
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
72.06365
seq distance
289
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.21068
seq distance
295
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.21068
seq distance
295
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.45993
seq distance
207
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.45993
seq distance
207
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
82.88896
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
82.88896
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.86955
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.86955
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
84.86955
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
84.86955
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.75262
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.75262
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
93.87322
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
93.87322
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
95.85472
seq distance
304
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
95.85472
seq distance
304
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.34938
seq distance
309
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.34938
seq distance
309
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
98.34442
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
98.34442
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.50087
seq distance
304
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.50087
seq distance
304
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
113.828705
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
113.828705
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
115.950775
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
115.950775
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
115.950775
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
115.950775
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
115.97353
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
115.97353
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
121.361855
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
121.361855
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
121.361855
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
121.361855
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
124.19167
seq distance
328
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
124.19167
seq distance
328
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
124.520096
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
124.520096
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
126.02443
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
126.02443
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
129.15633
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
129.15633
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
129.24374
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
129.24374
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
130.93187
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
130.93187
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
132.03873
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
132.03873
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
133.41177
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
133.41177
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
134.78748
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
134.78748
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
136.42638
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
136.42638
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
137.38359
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
137.38359
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
137.9702
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
137.9702
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
138.11775
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
138.11775
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
138.79657
seq distance
328
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
138.79657
seq distance
328
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
139.02222
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
139.02222
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
139.36475
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
139.36475
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
140.52301
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
140.52301
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
140.55585
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
140.55585
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
140.55585
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
140.55585
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
141.97171
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
141.97171
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
143.55057
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
143.55057
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
460
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
460
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
460
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
460
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
143.81114
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
143.81114
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
143.93825
seq distance
332
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
143.93825
seq distance
332
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
143.93825
seq distance
332
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
143.93825
seq distance
332
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
145.24161
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
145.24161
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
145.6004
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
145.6004
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.11514
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.11514
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.17326
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.17326
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
149.04509
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
149.04509
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
150.40112
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
150.40112
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
150.88353
seq distance
335
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
150.88353
seq distance
335
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
153.2223
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
153.2223
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
153.68192
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
153.68192
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
153.69707
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
153.69707
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
154.75714
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
154.75714
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
155.48808
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
155.48808
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
156.0802
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
156.0802
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
158.35007
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
158.35007
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
162.68648
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
162.68648
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
163.08795
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
163.08795
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
163.78964
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
163.78964
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
163.90404
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
163.90404
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
164.73662
seq distance
429
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
164.73662
seq distance
429
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
171.98297
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
171.98297
seq distance
False
chain
C
Details
Redox score
73.24
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
4.22
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
120
Residue number B
126
Peptide name
Uromodulin
7pfp C 77 C 83
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.795668
seq distance
0
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.795668
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.85768
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.85768
seq distance
0
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.8999367
seq distance
10
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.8999367
seq distance
10
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
8.784666
seq distance
13
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
8.784666
seq distance
13
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
12.429286
seq distance
20
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
12.429286
seq distance
20
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
16.38489
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
16.38489
seq distance
25
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
16.584217
seq distance
25
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
16.584217
seq distance
25
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
18.355453
seq distance
26
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
18.355453
seq distance
26
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.915386
seq distance
18
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.915386
seq distance
18
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.126495
seq distance
45
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.126495
seq distance
45
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.348557
seq distance
29
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.348557
seq distance
29
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
26.841671
seq distance
43
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
26.841671
seq distance
43
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
27.431295
seq distance
37
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
27.431295
seq distance
37
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
27.545738
seq distance
52
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
27.545738
seq distance
52
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.854393
seq distance
65
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.854393
seq distance
65
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.854393
seq distance
65
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.854393
seq distance
65
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.963913
seq distance
67
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.963913
seq distance
67
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.433403
seq distance
67
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.433403
seq distance
67
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
44.05787
seq distance
87
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
44.05787
seq distance
87
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
45.018986
seq distance
72
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
45.018986
seq distance
72
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.979153
seq distance
89
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.979153
seq distance
89
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
56.27659
seq distance
119
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
56.27659
seq distance
119
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
62.029663
seq distance
121
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
62.029663
seq distance
121
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
64.298325
seq distance
153
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.81126
seq distance
112
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.81126
seq distance
112
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.900505
seq distance
199
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.900505
seq distance
199
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.0951
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.0951
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.0951
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.0951
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
70.19147
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
70.19147
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.19147
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.19147
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.29118
seq distance
165
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.29118
seq distance
165
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.94179
seq distance
147
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.94179
seq distance
147
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.704895
seq distance
102
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.704895
seq distance
102
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.963486
seq distance
142
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.963486
seq distance
142
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.963486
seq distance
142
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.963486
seq distance
142
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.645546
seq distance
140
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.645546
seq distance
140
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
76.08723
seq distance
209
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
76.08723
seq distance
209
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
76.122086
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
76.122086
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
77.41807
seq distance
134
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
77.41807
seq distance
134
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
77.41807
seq distance
134
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
77.41807
seq distance
134
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.696144
seq distance
172
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.696144
seq distance
172
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.734505
seq distance
139
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.734505
seq distance
139
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
79.86134
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
79.86134
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
80.109924
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
80.109924
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
80.109924
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
80.109924
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
84.264275
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
84.264275
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
86.13291
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
86.13291
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.99742
seq distance
217
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.99742
seq distance
217
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.71557
seq distance
232
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.71557
seq distance
232
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.62372
seq distance
251
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.62372
seq distance
251
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.62372
seq distance
251
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.62372
seq distance
251
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
89.467766
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
89.467766
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
90.12093
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
90.12093
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
90.715034
seq distance
233
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
90.715034
seq distance
233
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
94.31052
seq distance
264
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
94.31052
seq distance
264
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
94.448
seq distance
234
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
94.448
seq distance
234
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.57998
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.57998
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.67515
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.67515
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
96.13147
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
96.13147
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.76091
seq distance
332
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.76091
seq distance
332
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
98.43809
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
98.43809
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
102.036736
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
102.036736
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
104.70257
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
104.70257
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.40787
seq distance
338
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.40787
seq distance
338
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.842384
seq distance
250
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.842384
seq distance
250
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.14338
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.14338
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.292435
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.292435
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
109.347015
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
109.347015
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
109.74258
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
109.74258
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
112.129036
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
112.129036
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.20885
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.20885
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
112.21748
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
112.21748
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.830055
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.830055
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
114.13822
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
114.13822
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
114.36602
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
114.36602
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.91354
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.91354
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
115.061325
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
115.061325
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.42645
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.42645
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
119.281654
seq distance
347
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
119.281654
seq distance
347
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
120.03371
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
120.03371
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.69531
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.69531
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.71974
seq distance
352
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.71974
seq distance
352
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.69968
seq distance
347
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.69968
seq distance
347
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.81602
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.81602
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
130.84778
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
130.84778
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
136.70143
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
136.70143
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
137.74591
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
137.74591
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
142.7154
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
142.7154
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
143.14786
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
143.14786
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
143.60098
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
143.60098
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
144.63695
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
144.63695
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
156.34125
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
156.34125
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
156.56067
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
156.56067
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
159.87045
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
159.87045
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
164.84346
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
164.84346
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
165.42676
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
165.42676
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
169.23515
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
169.23515
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
169.23515
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
169.23515
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
173.52155
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
173.52155
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
176.56458
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
176.56458
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.81093
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.81093
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
183.53033
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
183.53033
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
187.39893
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
187.39893
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
188.54178
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
188.54178
seq distance
False
chain
A
Details
Redox score
72.93
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
4.29
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
77
Residue number B
83
Peptide name
Uromodulin
7q3n U 32 U 35
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8359737
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8359737
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.55846
seq distance
17
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.55846
seq distance
17
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
11.922547
seq distance
24
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
11.922547
seq distance
24
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.806349
seq distance
30
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
14.806349
seq distance
30
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.16406
seq distance
42
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.16406
seq distance
42
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.824842
seq distance
58
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.824842
seq distance
58
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.94943
seq distance
68
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.94943
seq distance
68
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.155354
seq distance
73
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.155354
seq distance
73
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
38.154625
seq distance
74
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
38.154625
seq distance
74
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
40.467342
seq distance
77
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
40.467342
seq distance
77
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.682644
seq distance
85
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.682644
seq distance
85
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.54971
seq distance
93
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.54971
seq distance
93
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.6313
seq distance
91
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.6313
seq distance
91
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.11296
seq distance
100
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.11296
seq distance
100
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
115
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
115
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.471275
seq distance
113
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.471275
seq distance
113
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.471275
seq distance
113
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.471275
seq distance
113
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
135
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
135
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.980003
seq distance
115
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.980003
seq distance
115
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.74022
seq distance
120
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.74022
seq distance
120
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
137
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
137
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
167
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
167
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
169
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
169
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
160
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
160
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
201
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
247
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
247
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
81.19456
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
81.19456
seq distance
False
chain
F
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
150
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
150
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
195
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
195
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
257
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
257
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
213
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
213
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
190
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
190
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
190
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
190
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
188
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
188
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
187
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
187
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
182
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
182
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
182
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
182
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
220
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
220
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
265
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
265
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
280
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
280
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
281
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
281
chain
U
Details
Redox score
72.46
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
5.12
Half-sphere exposure sum
49
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
32
Residue number B
35
Peptide name
Uromodulin
4wrn A 397 A 400
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
15
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
15
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
16
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
16
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.705953
seq distance
17
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.705953
seq distance
17
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
11.172564
seq distance
34
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
11.172564
seq distance
34
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
11.172564
seq distance
34
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
11.172564
seq distance
34
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.733646
seq distance
47
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.733646
seq distance
47
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
21.714779
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
21.714779
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.714779
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.714779
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.366196
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
23.945656
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
25.07441
seq distance
33
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
25.07441
seq distance
33
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.4678
seq distance
115
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.4678
seq distance
115
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.956917
seq distance
121
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.956917
seq distance
121
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
30.141258
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.13585
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.13585
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.722225
seq distance
122
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.722225
seq distance
122
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.37451
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
154
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
154
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.778427
seq distance
130
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.778427
seq distance
130
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.778427
seq distance
130
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.778427
seq distance
130
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.987617
seq distance
135
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.987617
seq distance
135
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.703445
seq distance
271
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.703445
seq distance
271
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.9728
seq distance
154
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.9728
seq distance
154
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.598076
seq distance
158
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.598076
seq distance
158
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.598076
seq distance
158
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.598076
seq distance
158
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
58.181335
seq distance
161
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
58.181335
seq distance
161
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.95484
seq distance
298
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.95484
seq distance
298
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.95484
seq distance
298
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.95484
seq distance
298
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.52196
seq distance
206
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.52196
seq distance
206
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
68.52225
seq distance
302
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
68.52225
seq distance
302
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.72546
seq distance
255
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.72546
seq distance
255
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
287
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
287
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
287
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
70.90892
seq distance
287
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
71.564125
seq distance
305
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
71.564125
seq distance
305
chain
A
Details
Redox score
71.84
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
5.26
Half-sphere exposure sum
63
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
297 (Residue 397 in this structure)
Residue number B
300 (Residue 400 in this structure)
Peptide name
Uromodulin
7pfp A 155 A 161
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
Beta hairpin
begin
150
end
171
score
100.0
distance
2.778927
seq distance
0
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
2.778927
seq distance
0
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.8367755
seq distance
0
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
2.8367755
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.533733
seq distance
5
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.533733
seq distance
5
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.6386292
seq distance
9
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
3.6386292
seq distance
9
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.547052
seq distance
6
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.547052
seq distance
6
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
7.646566
seq distance
7
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
7.646566
seq distance
7
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
7.646566
seq distance
7
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
7.646566
seq distance
7
chain
A
D10C
begin
172
end
291
score
100.0
distance
8.512888
seq distance
11
chain
A
D10C
begin
172
end
291
score
100.0
distance
8.512888
seq distance
11
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.319217
seq distance
41
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.319217
seq distance
41
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
17.308395
seq distance
20
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
17.308395
seq distance
20
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
17.835484
seq distance
35
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
17.835484
seq distance
35
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
18.702383
seq distance
29
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
18.702383
seq distance
29
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.046701
seq distance
43
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.046701
seq distance
43
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
20.387384
seq distance
75
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.768204
seq distance
43
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.768204
seq distance
43
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
24.505207
seq distance
27
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
24.505207
seq distance
27
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.241718
seq distance
34
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.241718
seq distance
34
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.416655
seq distance
69
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.416655
seq distance
69
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.434525
seq distance
87
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.434525
seq distance
87
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
26.842394
seq distance
121
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
26.842394
seq distance
121
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
28.788576
seq distance
24
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
28.788576
seq distance
24
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
30.292212
seq distance
58
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
30.292212
seq distance
58
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
30.292212
seq distance
48
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
30.292212
seq distance
48
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.23879
seq distance
64
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.23879
seq distance
64
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.23879
seq distance
64
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.23879
seq distance
64
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.377804
seq distance
62
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.377804
seq distance
62
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.964563
seq distance
46
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
31.964563
seq distance
46
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986668
seq distance
56
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986668
seq distance
56
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.986668
seq distance
56
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.986668
seq distance
56
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
33.481567
seq distance
131
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
33.481567
seq distance
131
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.045288
seq distance
94
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.045288
seq distance
94
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.377476
seq distance
61
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.377476
seq distance
61
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45495
seq distance
154
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
43.45495
seq distance
154
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812454
seq distance
139
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
43.812454
seq distance
139
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
44.642387
seq distance
173
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
44.642387
seq distance
173
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
44.642387
seq distance
173
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
44.642387
seq distance
173
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
45.49477
seq distance
78
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
45.49477
seq distance
78
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.254433
seq distance
155
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.254433
seq distance
155
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
47.570133
seq distance
52
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
47.570133
seq distance
52
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
48.26575
seq distance
91
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
48.26575
seq distance
91
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.033016
seq distance
156
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.033016
seq distance
156
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.164627
seq distance
186
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.164627
seq distance
186
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
53.490425
seq distance
254
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
53.490425
seq distance
254
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
54.784214
seq distance
103
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
54.784214
seq distance
103
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
60.901814
seq distance
96
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
60.901814
seq distance
96
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
62.019543
seq distance
260
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
62.019543
seq distance
260
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
62.942825
seq distance
172
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
62.942825
seq distance
172
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
64.298904
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
64.298904
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
66.86759
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
66.86759
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.37803
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.37803
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
70.87985
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
70.87985
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
75.821266
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
75.821266
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
75.821266
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
75.821266
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
79.82515
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
79.82515
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
81.12015
seq distance
269
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
81.12015
seq distance
269
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
82.12843
seq distance
269
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
82.12843
seq distance
269
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
82.3594
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
82.3594
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
82.711754
seq distance
274
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
82.711754
seq distance
274
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
99.6443
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
99.6443
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
101.75668
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
101.75668
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
101.75668
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
101.75668
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
102.498245
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
102.498245
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
105.4899
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
105.4899
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
105.4899
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
105.4899
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
105.59525
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
105.59525
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
105.59525
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
105.59525
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
108.58728
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
108.58728
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
109.83446
seq distance
293
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
109.83446
seq distance
293
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.55015
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.55015
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.55015
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.55015
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.66367
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.66367
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.19475
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.19475
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.9969
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.9969
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
115.65707
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
115.65707
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
117.15653
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
117.15653
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.80084
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.80084
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
119.71164
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
119.71164
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.713585
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.713585
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.713585
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.713585
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
120.83988
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
120.83988
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
122.27169
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
122.27169
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
122.720665
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
122.720665
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
123.05937
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
123.05937
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
123.95925
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
123.95925
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
123.9699
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
123.9699
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
124.4409
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
124.4409
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
125.05645
seq distance
293
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
125.05645
seq distance
293
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
125.32698
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
125.32698
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
125.32698
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
125.32698
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
125.82767
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
125.82767
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
126.825745
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
126.825745
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
126.825745
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
126.825745
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
129.32607
seq distance
297
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
129.32607
seq distance
297
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
129.32607
seq distance
297
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
129.32607
seq distance
297
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
129.43364
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
129.43364
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.47633
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.47633
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
129.68074
seq distance
425
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
129.68074
seq distance
425
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
129.68074
seq distance
425
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
129.68074
seq distance
425
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
129.88171
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
129.88171
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
129.93887
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
129.93887
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
130.78448
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
130.78448
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
130.82866
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
130.82866
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.11694
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.11694
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
133.20816
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
133.20816
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.56374
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
135.34195
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
135.34195
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
135.69627
seq distance
300
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
135.69627
seq distance
300
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
136.74605
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
136.74605
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
136.82138
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
136.82138
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
138.39409
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
138.39409
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
139.05544
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
139.05544
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
139.21492
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
139.21492
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
141.26193
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
141.26193
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
145.08904
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
145.08904
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
145.41544
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
145.41544
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
145.91515
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
145.91515
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
146.89336
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
146.89336
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
150.41302
seq distance
394
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
150.41302
seq distance
394
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
154.77147
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
154.77147
seq distance
False
chain
C
Details
Redox score
71.6
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
4.92
Half-sphere exposure sum
62
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
155
Residue number B
161
Peptide name
Uromodulin
7q3n U 161 U 170
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8263662
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8263662
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.832412
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.832412
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.5471766
seq distance
11
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.5471766
seq distance
11
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.8698103
seq distance
6
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.8698103
seq distance
6
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.708459
seq distance
12
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
5.708459
seq distance
12
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
8.068536
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
8.068536
seq distance
13
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
8.068536
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
8.068536
seq distance
13
chain
U
D10C
begin
172
end
291
score
100.0
distance
9.070987
seq distance
2
chain
U
D10C
begin
172
end
291
score
100.0
distance
9.070987
seq distance
2
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.744243
seq distance
32
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.744243
seq distance
32
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.806913
seq distance
26
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
16.806913
seq distance
26
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
17.621117
seq distance
41
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
17.621117
seq distance
41
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.780264
seq distance
35
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
17.780264
seq distance
35
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.53261
seq distance
34
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.53261
seq distance
34
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
21.904007
seq distance
66
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.640121
seq distance
49
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.640121
seq distance
49
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.419632
seq distance
33
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
23.419632
seq distance
33
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.676798
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.676798
seq distance
25
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.71242
seq distance
60
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.71242
seq distance
60
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.799593
seq distance
78
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.799593
seq distance
78
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
27.619593
seq distance
112
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
27.619593
seq distance
112
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.203056
seq distance
64
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
28.203056
seq distance
64
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.203056
seq distance
54
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
28.203056
seq distance
54
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.115774
seq distance
15
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
29.115774
seq distance
15
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.599508
seq distance
52
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
30.599508
seq distance
52
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.751404
seq distance
55
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.751404
seq distance
55
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.751404
seq distance
55
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.751404
seq distance
55
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.86511
seq distance
53
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.86511
seq distance
53
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.9042
seq distance
47
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.9042
seq distance
47
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
32.9042
seq distance
47
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
32.9042
seq distance
47
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.17757
seq distance
122
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
34.17757
seq distance
122
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.18574
seq distance
85
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.18574
seq distance
85
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.81536
seq distance
52
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.81536
seq distance
52
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.16641
seq distance
130
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.16641
seq distance
130
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.26303
seq distance
145
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
44.26303
seq distance
145
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.519413
seq distance
84
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
44.519413
seq distance
84
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.478836
seq distance
58
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
45.478836
seq distance
58
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.092567
seq distance
146
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
47.092567
seq distance
146
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
48.411705
seq distance
97
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
48.411705
seq distance
97
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
54.38584
seq distance
109
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
54.38584
seq distance
109
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
55.250103
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
55.250103
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
61.188625
seq distance
102
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
61.188625
seq distance
102
chain
U
Details
Redox score
71.3
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
5.05
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
161
Residue number B
170
Peptide name
Uromodulin
4wrn A 406 A 415
A redox-regulated disulphide may form within Uromodulin at these cysteines.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
6
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
6
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.6136
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.6136
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
24.327309
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
24.327309
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.399593
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.399593
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.704967
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.704967
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Details
Redox score
71.12
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
5.28
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
306 (Residue 406 in this structure)
Residue number B
315 (Residue 415 in this structure)
Peptide name
Uromodulin
7pfp C 41 C 50
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8195221
seq distance
0
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8195221
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.121767
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.121767
seq distance
2
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.022167
seq distance
9
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.022167
seq distance
9
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.035675
seq distance
15
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.035675
seq distance
15
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.547386
seq distance
27
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.547386
seq distance
27
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.838911
seq distance
43
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.838911
seq distance
43
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
32.185616
seq distance
53
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
32.185616
seq distance
53
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.2566
seq distance
58
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
33.2566
seq distance
58
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
39.59593
seq distance
59
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
39.59593
seq distance
59
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
41.177975
seq distance
62
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
41.177975
seq distance
62
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.45348
seq distance
70
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
42.45348
seq distance
70
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.377586
seq distance
78
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
43.377586
seq distance
78
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.991615
seq distance
76
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.991615
seq distance
76
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.659714
seq distance
85
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.659714
seq distance
85
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
51.583385
seq distance
100
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
51.583385
seq distance
100
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.142757
seq distance
98
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.142757
seq distance
98
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.142757
seq distance
98
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.142757
seq distance
98
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.66483
seq distance
120
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.66483
seq distance
120
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.795155
seq distance
100
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.795155
seq distance
100
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.083973
seq distance
105
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.083973
seq distance
105
chain
C
D10C
begin
172
end
291
score
100.0
distance
62.122173
seq distance
122
chain
C
D10C
begin
172
end
291
score
100.0
distance
62.122173
seq distance
122
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.73019
seq distance
152
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.73019
seq distance
152
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.1259
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.1259
seq distance
154
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.62989
seq distance
145
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.62989
seq distance
145
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.8835
seq distance
186
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
78.980064
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
78.980064
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
78.980064
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
78.980064
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.86616
seq distance
232
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.86616
seq distance
232
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
81.5755
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
81.5755
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
81.5755
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
81.5755
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.136475
seq distance
135
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.136475
seq distance
135
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.02956
seq distance
180
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
84.02956
seq distance
180
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
84.620514
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
84.620514
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.696144
seq distance
198
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.696144
seq distance
198
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.16577
seq distance
175
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.16577
seq distance
175
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
85.16577
seq distance
175
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
85.16577
seq distance
175
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
85.16961
seq distance
242
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
85.16961
seq distance
242
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
85.8056
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
85.8056
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
85.8056
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
85.8056
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.81938
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.81938
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
87.16102
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
87.16102
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
88.123474
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
88.123474
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
88.123474
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
88.123474
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.30861
seq distance
172
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
89.30861
seq distance
172
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
90.143524
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
90.143524
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.8752
seq distance
167
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.8752
seq distance
167
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.8752
seq distance
167
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.8752
seq distance
167
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.122375
seq distance
205
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
92.122375
seq distance
205
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
92.899704
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
92.899704
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
94.19076
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
94.19076
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.08712
seq distance
250
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.08712
seq distance
250
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
95.70382
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
95.70382
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
95.81683
seq distance
284
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
95.81683
seq distance
284
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
95.81683
seq distance
284
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
95.81683
seq distance
284
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.65706
seq distance
265
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.65706
seq distance
265
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
98.61528
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
98.61528
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
98.61528
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
98.61528
seq distance
False
chain
B
EGF-like 4
begin
292
end
323
score
100.0
distance
99.95013
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
99.95013
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
100.85304
seq distance
266
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
100.85304
seq distance
266
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
102.94243
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
102.94243
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.2211
seq distance
297
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.2211
seq distance
297
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
103.3665
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
103.3665
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
104.28356
seq distance
267
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
104.28356
seq distance
267
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.97553
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.97553
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
106.11732
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
106.11732
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
106.62235
seq distance
365
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
106.62235
seq distance
365
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.95833
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.95833
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
109.797714
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
109.797714
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
111.40449
seq distance
283
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
111.40449
seq distance
283
chain
C
D10C
begin
172
end
291
score
100.0
distance
111.43514
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
111.43514
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.24545
seq distance
371
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
112.24545
seq distance
371
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.77089
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
112.77089
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
113.334274
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
113.334274
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
114.57463
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
114.57463
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.66932
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
114.66932
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
115.19355
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
115.19355
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
115.19355
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
115.19355
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
116.2664
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
116.2664
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
116.55727
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
116.55727
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
116.55727
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
116.55727
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
116.8888
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
116.8888
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.91077
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.91077
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
118.02998
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
118.02998
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.581215
seq distance
380
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.581215
seq distance
380
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.5217
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.5217
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
119.5217
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
119.5217
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.03579
seq distance
385
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.03579
seq distance
385
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
120.83334
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
120.83334
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
121.39681
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
121.39681
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
121.470436
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
121.470436
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
124.29489
seq distance
380
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
124.29489
seq distance
380
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.488106
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.488106
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
124.710365
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
124.710365
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
134.27373
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
134.27373
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
134.56721
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
134.56721
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
137.43488
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
137.43488
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
138.35126
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
140.12718
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
140.12718
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
140.12718
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
140.12718
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
143.90007
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
143.90007
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
149.34485
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
149.34485
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
150.29532
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
150.29532
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
150.32758
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
150.32758
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
150.45757
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
150.45757
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
153.94652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
153.94652
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
153.94652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
153.94652
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
163.8491
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
163.8491
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
164.20557
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
164.20557
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
166.99223
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
166.99223
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
172.2282
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
172.2282
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
172.40971
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
172.40971
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
176.97234
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
176.97234
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
176.97234
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
176.97234
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
180.69063
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
180.69063
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
188.2066
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
188.2066
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
190.28024
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
190.28024
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
194.36519
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
194.36519
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
195.3114
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
195.3114
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
199.50558
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
199.50558
seq distance
False
chain
A
Details
Redox score
70.8
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
5.65
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
41
Residue number B
50
Peptide name
Uromodulin
7pfp C 126 C 135
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.817475
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.817475
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817475
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817475
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8559022
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
2.8559022
seq distance
0
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.4135394
seq distance
6
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.4135394
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
3.6756375
seq distance
14
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
3.6756375
seq distance
14
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
5.2887707
seq distance
2
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
5.2887707
seq distance
2
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
9.668135
seq distance
29
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
9.668135
seq distance
29
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.668135
seq distance
19
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.668135
seq distance
19
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.099253
seq distance
13
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.099253
seq distance
13
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.099253
seq distance
13
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.099253
seq distance
13
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.574875
seq distance
17
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.574875
seq distance
17
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
16.275095
seq distance
15
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
16.275095
seq distance
15
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
16.564434
seq distance
15
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
16.564434
seq distance
15
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.038002
seq distance
35
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.038002
seq distance
35
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.236094
seq distance
20
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.236094
seq distance
20
chain
C
D10C
begin
172
end
291
score
100.0
distance
24.411125
seq distance
37
chain
C
D10C
begin
172
end
291
score
100.0
distance
24.411125
seq distance
37
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
25.122868
seq distance
49
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
25.122868
seq distance
49
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
26.278952
seq distance
23
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
26.278952
seq distance
23
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.158363
seq distance
62
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.158363
seq distance
62
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.276733
seq distance
67
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.276733
seq distance
67
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
36.22287
seq distance
69
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
36.22287
seq distance
69
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.759384
seq distance
74
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.759384
seq distance
74
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.73386
seq distance
101
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.71245
seq distance
67
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.71245
seq distance
67
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
43.85205
seq distance
60
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
43.85205
seq distance
60
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.20885
seq distance
147
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.20885
seq distance
147
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.50297
seq distance
113
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.50297
seq distance
113
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.841408
seq distance
95
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.841408
seq distance
95
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.941875
seq distance
50
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.941875
seq distance
50
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
47.837025
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
47.837025
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
47.837025
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
47.837025
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.48555
seq distance
90
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.48555
seq distance
90
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.48555
seq distance
90
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.48555
seq distance
90
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
49.71746
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
49.71746
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
49.71746
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
49.71746
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.80234
seq distance
88
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.80234
seq distance
88
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
50.75086
seq distance
157
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
50.75086
seq distance
157
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.368362
seq distance
82
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.368362
seq distance
82
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.368362
seq distance
82
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.368362
seq distance
82
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.052586
seq distance
120
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.052586
seq distance
120
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
52.611202
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
52.611202
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
52.611202
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
52.611202
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
52.88551
seq distance
87
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
52.88551
seq distance
87
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
56.980167
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
56.980167
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.76351
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.76351
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
60.76351
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
60.76351
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.362175
seq distance
165
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.362175
seq distance
165
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.745926
seq distance
180
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.745926
seq distance
180
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
62.939743
seq distance
199
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
62.939743
seq distance
199
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
62.939743
seq distance
199
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
62.939743
seq distance
199
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.65481
seq distance
181
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.65481
seq distance
181
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.33541
seq distance
212
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.33541
seq distance
212
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.398796
seq distance
182
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.398796
seq distance
182
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
68.45394
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
68.45394
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
69.17127
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
69.17127
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
70.05834
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
70.05834
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
70.05834
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
70.05834
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
71.182
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
71.182
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
71.638214
seq distance
280
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
71.638214
seq distance
280
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
72.97762
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
72.97762
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
73.339966
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
73.339966
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
74.74123
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
74.74123
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
76.15513
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
76.15513
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.09001
seq distance
286
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.09001
seq distance
286
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.57516
seq distance
198
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.57516
seq distance
198
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
83.3804
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
83.3804
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.96346
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.96346
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.88517
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.88517
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
89.01621
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
89.01621
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
90.87529
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
90.87529
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.438866
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.438866
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.438866
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.438866
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
94.185616
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
94.185616
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
95.23141
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
95.23141
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
95.877335
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
95.877335
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
96.34037
seq distance
295
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
96.34037
seq distance
295
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.77903
seq distance
300
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.77903
seq distance
300
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.674866
seq distance
295
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.674866
seq distance
295
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
98.718925
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
98.718925
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
99.550964
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
99.550964
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
100.79404
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
100.79404
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
101.4365
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
101.4365
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
102.18735
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
102.18735
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
102.18735
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
102.18735
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
103.050156
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
103.050156
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
105.23113
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
105.23113
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
106.3404
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
106.3404
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
107.27667
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
107.27667
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
108.54315
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
108.54315
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
108.54315
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
108.54315
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
108.87682
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
108.87682
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
112.005196
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
112.005196
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
113.875404
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
113.875404
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
114.29154
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
114.29154
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
117.36836
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
117.36836
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.51169
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.51169
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.51169
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.51169
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
121.44429
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
121.44429
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
125.222755
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
128.47424
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
128.47424
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
134.31639
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
134.31639
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
134.75928
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
134.75928
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
135.16927
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
135.16927
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
136.15895
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
136.15895
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
138.43025
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
138.43025
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
138.43025
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
138.43025
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
147.2582
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
147.2582
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
148.32747
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
148.32747
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
151.10875
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
151.10875
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
155.58482
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
155.58482
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
157.14296
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
157.14296
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
161.15121
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
161.15121
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
161.15121
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
161.15121
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
164.56407
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
164.56407
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
166.76982
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
166.76982
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
173.68068
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
173.68068
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
174.10028
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
174.10028
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
178.4245
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
178.4245
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
179.7609
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
179.7609
seq distance
False
chain
A
Details
Redox score
70.49
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
5.72
Half-sphere exposure sum
56
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
126
Residue number B
135
Peptide name
Uromodulin
7pfp A 112 A 120
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.8075025
seq distance
0
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.8075025
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8075025
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8075025
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.817395
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.817395
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.4785626
seq distance
15
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.4785626
seq distance
15
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.774101
seq distance
6
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.774101
seq distance
6
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.0306287
seq distance
8
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.0306287
seq distance
8
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
8.6664295
seq distance
15
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
8.6664295
seq distance
15
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.6664295
seq distance
5
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.6664295
seq distance
5
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.975721
seq distance
3
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.975721
seq distance
3
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.725509
seq distance
28
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.725509
seq distance
28
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.725509
seq distance
28
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.725509
seq distance
28
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
16.137907
seq distance
30
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
16.137907
seq distance
30
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.001066
seq distance
30
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.001066
seq distance
30
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.75202
seq distance
50
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
17.75202
seq distance
50
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.133957
seq distance
35
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
19.133957
seq distance
35
chain
A
D10C
begin
172
end
291
score
100.0
distance
23.875835
seq distance
52
chain
A
D10C
begin
172
end
291
score
100.0
distance
23.875835
seq distance
52
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
24.036072
seq distance
35
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
24.036072
seq distance
35
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.204687
seq distance
9
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.204687
seq distance
9
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.239937
seq distance
82
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
30.239937
seq distance
82
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.570412
seq distance
48
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.570412
seq distance
48
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
35.978657
seq distance
84
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
35.978657
seq distance
84
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.10639
seq distance
60
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.10639
seq distance
60
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
38.40542
seq distance
116
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.99878
seq distance
53
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.99878
seq distance
53
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.2633
seq distance
75
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.2633
seq distance
75
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.779312
seq distance
162
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
44.779312
seq distance
162
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.811966
seq distance
128
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
44.811966
seq distance
128
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.978905
seq distance
110
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
44.978905
seq distance
110
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.98028
seq distance
65
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
46.98028
seq distance
65
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.789635
seq distance
105
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.789635
seq distance
105
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
49.789635
seq distance
105
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
49.789635
seq distance
105
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.93435
seq distance
103
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
49.93435
seq distance
103
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
50.21155
seq distance
172
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
50.21155
seq distance
172
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.518757
seq distance
97
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.518757
seq distance
97
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.518757
seq distance
97
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.518757
seq distance
97
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.404316
seq distance
135
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.404316
seq distance
135
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.071934
seq distance
102
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.071934
seq distance
102
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.013
seq distance
180
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.013
seq distance
180
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.459908
seq distance
195
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
61.459908
seq distance
195
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
63.0457
seq distance
214
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
63.0457
seq distance
214
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
63.0457
seq distance
214
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
63.0457
seq distance
214
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.43154
seq distance
196
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
64.43154
seq distance
196
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.177315
seq distance
197
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
68.177315
seq distance
197
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.22591
seq distance
227
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
68.22591
seq distance
227
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
72.06365
seq distance
295
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
72.06365
seq distance
295
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.21068
seq distance
301
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
80.21068
seq distance
301
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.45993
seq distance
213
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
80.45993
seq distance
213
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
82.88896
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
82.88896
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.86955
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
84.86955
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
84.86955
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
84.86955
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.75262
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.75262
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
91.23852
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
93.87322
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
93.87322
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
95.85472
seq distance
310
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
95.85472
seq distance
310
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.34938
seq distance
315
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
97.34938
seq distance
315
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
98.34442
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
98.34442
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.50087
seq distance
310
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
98.50087
seq distance
310
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
113.828705
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
113.828705
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
115.950775
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
115.950775
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
115.950775
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
115.950775
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
115.97353
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
115.97353
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
120.48706
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
121.361855
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
121.361855
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
121.361855
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
121.361855
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
124.19167
seq distance
334
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
124.19167
seq distance
334
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
124.520096
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
124.520096
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
125.91785
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
126.02443
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
126.02443
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
129.15633
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
129.15633
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
129.24374
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
129.24374
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
130.93187
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
130.93187
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
132.03873
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
132.03873
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
133.41177
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
133.41177
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
134.19724
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
134.78748
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
134.78748
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
136.42638
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
136.42638
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
137.38359
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
137.38359
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
137.9702
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
137.9702
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
138.11775
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
138.11775
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
138.79657
seq distance
334
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
138.79657
seq distance
334
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
139.02222
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
139.02222
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
139.36475
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
139.36475
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
140.52301
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
140.52301
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
140.55585
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
140.55585
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
140.55585
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
140.55585
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
141.97171
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
141.97171
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
142.15785
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
143.55057
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
143.55057
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
466
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
466
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
466
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
143.58078
seq distance
466
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
143.81114
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
143.81114
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
143.93825
seq distance
338
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
143.93825
seq distance
338
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
143.93825
seq distance
338
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
143.93825
seq distance
338
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
145.24161
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
145.24161
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
145.6004
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
145.6004
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.11514
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.11514
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.17326
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.17326
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
148.8854
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
149.04509
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
149.04509
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
150.40112
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
150.40112
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
150.88353
seq distance
341
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
150.88353
seq distance
341
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
153.2223
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
153.2223
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
153.68192
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
153.68192
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
153.69707
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
153.69707
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
154.75714
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
154.75714
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
155.48808
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
155.48808
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
156.0802
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
156.0802
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
158.35007
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
158.35007
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
162.68648
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
162.68648
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
163.08795
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
163.08795
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
163.78964
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
163.78964
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
163.90404
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
163.90404
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
164.73662
seq distance
435
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
164.73662
seq distance
435
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
171.98297
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
171.98297
seq distance
False
chain
C
Details
Redox score
70.25
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
6.17
Half-sphere exposure sum
51
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
112
Residue number B
120
Peptide name
Uromodulin
7q3n U 255 U 256
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
4.034702
seq distance
7
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
4.034702
seq distance
7
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.9117346
seq distance
25
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.9117346
seq distance
25
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.987214
seq distance
33
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.987214
seq distance
33
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.448543
seq distance
32
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.448543
seq distance
32
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.275262
seq distance
30
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.275262
seq distance
30
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.275262
seq distance
30
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.275262
seq distance
30
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
15.853159
seq distance
70
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
15.853159
seq distance
70
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
17.746138
seq distance
36
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
17.746138
seq distance
36
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
26
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
26
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
60
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.082659
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
22.283691
seq distance
59
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
22.283691
seq distance
59
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.347853
seq distance
53
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.347853
seq distance
53
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
22.61555
seq distance
60
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
22.61555
seq distance
60
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.806345
seq distance
51
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.806345
seq distance
51
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
23.338318
seq distance
84
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
23.338318
seq distance
84
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
26.12778
seq distance
44
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
26.12778
seq distance
44
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.812174
seq distance
100
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.812174
seq distance
100
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.41016
seq distance
105
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.41016
seq distance
105
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.249615
seq distance
85
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.249615
seq distance
85
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.256
seq distance
106
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.256
seq distance
106
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.128834
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.128834
seq distance
107
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.128834
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.128834
seq distance
107
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.938473
seq distance
120
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.938473
seq distance
120
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.581192
seq distance
135
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.581192
seq distance
135
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
47.76727
seq distance
129
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
47.76727
seq distance
129
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
52.271862
seq distance
127
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
52.271862
seq distance
127
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
53.05646
seq distance
143
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
53.05646
seq distance
143
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.298046
seq distance
158
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.298046
seq distance
158
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.298046
seq distance
148
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.298046
seq distance
148
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
60.421444
seq distance
146
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
60.421444
seq distance
146
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
61.09675
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
61.09675
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19274
seq distance
178
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19274
seq distance
178
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.280754
seq distance
152
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.280754
seq distance
152
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.200745
seq distance
191
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.200745
seq distance
191
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.596245
seq distance
203
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.596245
seq distance
203
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.821144
seq distance
196
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.821144
seq distance
196
chain
U
Details
Redox score
69.71
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
6.44
Half-sphere exposure sum
47
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
255
Residue number B
256
Peptide name
Uromodulin
7pfp C 83 C 92
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.795668
seq distance
0
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.795668
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
6
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
6
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.4702554
seq distance
1
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.4702554
seq distance
1
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
8.784666
seq distance
19
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
8.784666
seq distance
19
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
11
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.695897
seq distance
16
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.695897
seq distance
16
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
16.38489
seq distance
31
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
16.38489
seq distance
31
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.907883
seq distance
17
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.907883
seq distance
17
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.915386
seq distance
24
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
18.915386
seq distance
24
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.270367
seq distance
36
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.270367
seq distance
36
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.1608
seq distance
20
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.1608
seq distance
20
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.968925
seq distance
34
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.968925
seq distance
34
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.706308
seq distance
28
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.706308
seq distance
28
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.991545
seq distance
43
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.991545
seq distance
43
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.560036
seq distance
58
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.560036
seq distance
58
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.02007
seq distance
58
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.02007
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.32811
seq distance
78
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.32811
seq distance
78
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.335716
seq distance
63
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.335716
seq distance
63
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.10001
seq distance
80
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.10001
seq distance
80
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.688904
seq distance
110
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.688904
seq distance
110
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.31525
seq distance
112
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.31525
seq distance
112
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.58828
seq distance
103
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.58828
seq distance
103
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.78647
seq distance
190
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.78647
seq distance
190
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.0951
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.0951
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.0951
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.0951
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
69.91005
seq distance
156
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
69.91005
seq distance
156
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
70.19147
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
70.19147
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.19147
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.19147
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.44863
seq distance
138
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.44863
seq distance
138
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.19459
seq distance
93
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.19459
seq distance
93
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
75.131386
seq distance
200
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
75.131386
seq distance
200
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.19619
seq distance
131
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.19619
seq distance
131
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
76.122086
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
76.122086
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.36298
seq distance
163
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.36298
seq distance
163
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.323906
seq distance
130
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.323906
seq distance
130
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
79.86134
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
79.86134
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
80.109924
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
80.109924
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
80.109924
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
80.109924
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
84.264275
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
84.264275
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
86.13291
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
86.13291
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.18189
seq distance
208
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.18189
seq distance
208
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
86.92385
seq distance
223
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
86.92385
seq distance
223
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.178734
seq distance
242
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.178734
seq distance
242
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.178734
seq distance
242
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.178734
seq distance
242
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
89.467766
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
89.467766
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.61114
seq distance
False
chain
B
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.96873
seq distance
224
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.96873
seq distance
224
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
90.12093
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
90.12093
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
93.67473
seq distance
255
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
93.67473
seq distance
255
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
93.703125
seq distance
225
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
93.703125
seq distance
225
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.57998
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.57998
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.57892
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.57892
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
96.13147
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
96.13147
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.58953
seq distance
323
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.58953
seq distance
323
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
98.43809
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
98.43809
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
102.036736
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
102.036736
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
104.70257
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
104.70257
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.009315
seq distance
329
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.009315
seq distance
329
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.24906
seq distance
241
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.24906
seq distance
241
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.14338
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.14338
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
107.70268
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
107.70268
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
109.347015
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
109.347015
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
109.74258
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
109.74258
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
110.37448
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.560326
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.560326
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
112.129036
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
112.129036
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.20885
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
112.20885
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.830055
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
112.830055
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
114.13822
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
114.13822
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
114.36602
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
114.36602
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.91354
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.91354
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
115.061325
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
115.061325
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
115.68417
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
115.68417
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.08967
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.43854
seq distance
338
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.43854
seq distance
338
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
119.930534
seq distance
343
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
119.930534
seq distance
343
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
120.03371
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
120.03371
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.69531
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.69531
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.11132
seq distance
338
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.11132
seq distance
338
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.81602
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.81602
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
130.84778
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
130.84778
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
134.46228
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
135.8499
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
135.8499
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
137.74591
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
137.74591
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
142.7154
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
142.7154
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
143.14786
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
143.14786
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
143.60098
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
143.60098
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
144.63695
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
144.63695
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
146.70573
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
156.34125
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
156.34125
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
156.56067
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
156.56067
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
159.87045
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
159.87045
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
164.84346
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
164.84346
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
165.42676
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
165.42676
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
169.23515
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
169.23515
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
169.23515
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
169.23515
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
173.52155
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
173.52155
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
176.56458
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
176.56458
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.81093
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.81093
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
183.53033
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
183.53033
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
187.39893
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
187.39893
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
188.54178
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
188.54178
seq distance
False
chain
A
Details
Redox score
69.65
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
6.23
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
83
Residue number B
92
Peptide name
Uromodulin
7pfp C 69 C 77
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8000793
seq distance
0
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8000793
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.85768
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.85768
seq distance
0
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.8999367
seq distance
16
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.8999367
seq distance
16
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.826049
seq distance
5
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.826049
seq distance
5
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
12.429286
seq distance
26
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
12.429286
seq distance
26
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.635202
seq distance
17
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.635202
seq distance
17
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
16.584217
seq distance
31
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
16.584217
seq distance
31
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
17.802385
seq distance
10
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
17.802385
seq distance
10
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
18.355453
seq distance
32
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
18.355453
seq distance
32
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.126495
seq distance
51
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
22.126495
seq distance
51
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.348557
seq distance
35
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
23.348557
seq distance
35
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
26.841671
seq distance
49
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
26.841671
seq distance
49
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
27.431295
seq distance
43
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
27.431295
seq distance
43
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
27.545738
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
27.545738
seq distance
58
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.854393
seq distance
71
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.854393
seq distance
71
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.854393
seq distance
71
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.854393
seq distance
71
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.963913
seq distance
73
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.963913
seq distance
73
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.433403
seq distance
73
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.433403
seq distance
73
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
44.05787
seq distance
93
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
44.05787
seq distance
93
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
45.018986
seq distance
78
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
45.018986
seq distance
78
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.979153
seq distance
95
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.979153
seq distance
95
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
56.27659
seq distance
125
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
56.27659
seq distance
125
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
62.029663
seq distance
127
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
62.029663
seq distance
127
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
64.298325
seq distance
159
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.63626
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.63626
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.63626
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.63626
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.81126
seq distance
118
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.81126
seq distance
118
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.900505
seq distance
205
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.900505
seq distance
205
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
69.62916
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
69.62916
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
69.62916
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
69.62916
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.29118
seq distance
171
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
70.29118
seq distance
171
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.94179
seq distance
153
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.94179
seq distance
153
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.696266
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.704895
seq distance
108
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.704895
seq distance
108
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.963486
seq distance
148
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.963486
seq distance
148
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.963486
seq distance
148
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.963486
seq distance
148
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.645546
seq distance
146
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.645546
seq distance
146
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.7116
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.7116
seq distance
False
chain
B
EGF-like 4
begin
292
end
323
score
100.0
distance
76.08723
seq distance
215
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
76.08723
seq distance
215
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
77.41807
seq distance
140
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
77.41807
seq distance
140
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
77.41807
seq distance
140
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
77.41807
seq distance
140
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.696144
seq distance
178
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.696144
seq distance
178
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
78.673256
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
78.673256
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.734505
seq distance
145
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.734505
seq distance
145
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.64237
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.64237
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.64237
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.64237
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
83.16241
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
83.16241
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
85.4075
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
85.4075
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.99742
seq distance
223
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.99742
seq distance
223
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.71557
seq distance
238
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.71557
seq distance
238
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
88.08909
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
88.08909
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
88.62372
seq distance
257
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.62372
seq distance
257
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.62372
seq distance
257
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.62372
seq distance
257
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
89.19279
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
89.19279
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
90.715034
seq distance
239
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
90.715034
seq distance
239
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.28662
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.28662
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
94.31052
seq distance
270
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
94.31052
seq distance
270
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
94.448
seq distance
240
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
94.448
seq distance
240
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.70394
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.70394
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
95.84724
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
95.84724
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.76091
seq distance
338
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.76091
seq distance
338
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
97.18093
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
97.18093
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.88726
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.88726
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
103.50722
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
103.50722
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.40787
seq distance
344
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.40787
seq distance
344
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.842384
seq distance
256
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.842384
seq distance
256
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.98219
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.98219
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
108.068085
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
108.068085
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.292435
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
108.292435
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
108.56387
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
108.56387
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
110.88289
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
110.88289
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
111.14153
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
111.14153
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
111.6716
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
111.6716
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
112.21748
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
112.21748
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
112.81873
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
112.81873
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
113.107635
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
113.107635
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
113.47075
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
113.47075
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
113.86243
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
113.86243
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.815445
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.42645
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
116.42645
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
118.7011
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
118.7011
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
119.281654
seq distance
353
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
119.281654
seq distance
353
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
119.29867
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
119.29867
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.71974
seq distance
358
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
120.71974
seq distance
358
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.69968
seq distance
353
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.69968
seq distance
353
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
126.640144
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
126.640144
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
129.6238
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
129.6238
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
136.54909
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
136.54909
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
136.70143
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
136.70143
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
141.42426
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
141.42426
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
141.87622
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
141.87622
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
142.36827
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
142.36827
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.72414
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
143.34232
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
143.34232
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
155.13562
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
155.13562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
155.29912
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
155.29912
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
158.62357
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
158.62357
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
163.6253
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
163.6253
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
164.15407
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
164.15407
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
167.98195
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
167.98195
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
167.98195
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
167.98195
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
172.28099
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
172.28099
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
175.561
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
175.561
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
180.58775
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
180.58775
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.46838
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.46838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
186.1843
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
186.1843
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
187.4631
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
187.4631
seq distance
False
chain
A
Details
Redox score
69.58
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
6.28
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
69
Residue number B
77
Peptide name
Uromodulin
4wrn A 397 A 415
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7760258
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
3
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
3
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
8.597081
seq distance
2
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
10.2868805
seq distance
19
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
12.477773
seq distance
32
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
21.521435
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.6136
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
22.6136
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
24.327309
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
24.327309
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
24.824986
seq distance
18
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
29.207203
seq distance
100
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
29.773993
seq distance
106
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.399593
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
31.399593
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
32.04521
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
32.479347
seq distance
107
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.704967
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
40.704967
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
139
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
45.210938
seq distance
115
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
52.198143
seq distance
120
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
54.44314
seq distance
139
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.66416
seq distance
256
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
56.11848
seq distance
143
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
57.607147
seq distance
146
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
63.502895
seq distance
283
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
64.312035
seq distance
191
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
67.93592
seq distance
287
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
69.529686
seq distance
240
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
70.99403
seq distance
290
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
71.123245
seq distance
272
chain
A
Details
Redox score
69.43
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
6.55
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
297 (Residue 397 in this structure)
Residue number B
315 (Residue 415 in this structure)
Peptide name
Uromodulin
7q3n U 32 U 50
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8360379
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8360379
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.396499
seq distance
2
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
8.396499
seq distance
2
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.317991
seq distance
9
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
10.317991
seq distance
9
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.663811
seq distance
15
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
15.663811
seq distance
15
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.127811
seq distance
27
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
28.127811
seq distance
27
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.274307
seq distance
43
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
29.274307
seq distance
43
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.214926
seq distance
53
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.214926
seq distance
53
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.155354
seq distance
58
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
32.155354
seq distance
58
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
38.89932
seq distance
59
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
38.89932
seq distance
59
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
40.49437
seq distance
62
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
40.49437
seq distance
62
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.682644
seq distance
70
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
41.682644
seq distance
70
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
44.25274
seq distance
78
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
44.25274
seq distance
78
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.671356
seq distance
76
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
44.671356
seq distance
76
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.28487
seq distance
85
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
45.28487
seq distance
85
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
100
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
51.492767
seq distance
100
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.471275
seq distance
98
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.471275
seq distance
98
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
52.471275
seq distance
98
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
52.471275
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
120
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
57.92813
seq distance
120
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.980003
seq distance
100
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
57.980003
seq distance
100
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.74022
seq distance
105
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
61.74022
seq distance
105
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
122
chain
U
D10C
begin
172
end
291
score
100.0
distance
61.9584
seq distance
122
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
152
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.50124
seq distance
152
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
154
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.89156
seq distance
154
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
145
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
78.47258
seq distance
145
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.99571
seq distance
186
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
232
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
79.96089
seq distance
232
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
80.98452
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
80.98452
seq distance
False
chain
F
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
135
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.010925
seq distance
135
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
180
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
83.85337
seq distance
180
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
242
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
84.4769
seq distance
242
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
198
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
84.74989
seq distance
198
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
175
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
175
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.83067
seq distance
175
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.83067
seq distance
175
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
173
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.43998
seq distance
173
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
172
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.92737
seq distance
172
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
167
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
167
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
90.24958
seq distance
167
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
90.24958
seq distance
167
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
205
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
91.86867
seq distance
205
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
250
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.22448
seq distance
250
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
265
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.0102
seq distance
265
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
266
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.39563
seq distance
266
chain
U
Details
Redox score
68.6
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
7
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
32
Residue number B
50
Peptide name
Uromodulin
7q3n U 248 U 255
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8563979
seq distance
0
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8563979
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
31
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
31
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
31
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
31
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.300879
seq distance
18
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
7.300879
seq distance
18
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.987214
seq distance
26
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.987214
seq distance
26
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.448543
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
13.448543
seq distance
25
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.275262
seq distance
23
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.275262
seq distance
23
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.275262
seq distance
23
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.275262
seq distance
23
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
15.853159
seq distance
63
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
15.853159
seq distance
63
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
17.215683
seq distance
12
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
17.746138
seq distance
37
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
17.746138
seq distance
37
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
27
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
17.839455
seq distance
27
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
53
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
18.334236
seq distance
53
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.663702
seq distance
46
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.663702
seq distance
46
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.923899
seq distance
44
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.923899
seq distance
44
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
22.074953
seq distance
77
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
22.074953
seq distance
77
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
22.283691
seq distance
60
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
22.283691
seq distance
60
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
22.61555
seq distance
61
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
22.61555
seq distance
61
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
26.12778
seq distance
45
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
26.12778
seq distance
45
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.442461
seq distance
93
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.442461
seq distance
93
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.295357
seq distance
98
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.295357
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.749172
seq distance
78
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.749172
seq distance
78
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.209673
seq distance
99
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.209673
seq distance
99
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.054726
seq distance
100
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.054726
seq distance
100
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.054726
seq distance
100
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.054726
seq distance
100
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.847622
seq distance
113
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.847622
seq distance
113
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.36424
seq distance
128
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.36424
seq distance
128
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.57374
seq distance
122
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.57374
seq distance
122
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.201965
seq distance
120
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.201965
seq distance
120
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.805134
seq distance
136
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.805134
seq distance
136
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.250843
seq distance
151
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.250843
seq distance
151
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.250843
seq distance
141
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.250843
seq distance
141
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.239887
seq distance
139
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.239887
seq distance
139
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
61.804913
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
61.804913
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
72.25516
seq distance
171
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
72.25516
seq distance
171
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.16002
seq distance
145
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.16002
seq distance
145
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.20333
seq distance
184
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.20333
seq distance
184
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.509125
seq distance
196
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.509125
seq distance
196
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.84172
seq distance
189
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.84172
seq distance
189
chain
U
Details
Redox score
68.51
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
6.57
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
248
Residue number B
255
Peptide name
Uromodulin
7q3n U 112 U 135
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.786155
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.827526
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
2.827526
seq distance
0
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.2484336
seq distance
8
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.2484336
seq distance
8
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.752694
seq distance
9
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.752694
seq distance
9
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.279969
seq distance
7
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
4.279969
seq distance
7
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
7.395302
seq distance
15
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
7.395302
seq distance
15
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
7.395302
seq distance
5
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
7.395302
seq distance
5
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.473739
seq distance
3
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
9.473739
seq distance
3
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
11.745048
seq distance
13
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
16.575256
seq distance
15
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
16.575256
seq distance
15
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.210926
seq distance
15
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
17.210926
seq distance
15
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.931484
seq distance
35
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
18.931484
seq distance
35
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
20.549595
seq distance
20
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
20.549595
seq distance
20
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
23.810514
seq distance
35
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
23.810514
seq distance
35
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
24.07765
seq distance
9
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
24.07765
seq distance
9
chain
U
D10C
begin
172
end
291
score
100.0
distance
25.23823
seq distance
37
chain
U
D10C
begin
172
end
291
score
100.0
distance
25.23823
seq distance
37
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
29.773174
seq distance
48
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
29.773174
seq distance
48
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
31.034822
seq distance
67
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
31.034822
seq distance
67
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.107086
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.107086
seq distance
60
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
37.093647
seq distance
69
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
37.093647
seq distance
69
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
39.79079
seq distance
101
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.529636
seq distance
53
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
42.529636
seq distance
53
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.51997
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
44.51997
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
45.191322
seq distance
147
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
45.191322
seq distance
147
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
45.47063
seq distance
113
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
45.47063
seq distance
113
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
45.69738
seq distance
95
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
45.69738
seq distance
95
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
47.660564
seq distance
50
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
47.660564
seq distance
50
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
50.2754
seq distance
90
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
50.621693
seq distance
88
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
50.621693
seq distance
88
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
51.103256
seq distance
157
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
51.103256
seq distance
157
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
51.809113
seq distance
82
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.803368
seq distance
120
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
52.803368
seq distance
120
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.03928
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.03928
seq distance
False
chain
F
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.682655
seq distance
87
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
53.682655
seq distance
87
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.845833
seq distance
165
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
61.845833
seq distance
165
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
62.429432
seq distance
180
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
62.429432
seq distance
180
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
65.48917
seq distance
181
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
65.48917
seq distance
181
chain
U
Details
Redox score
68.23
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
7.1
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
112
Residue number B
135
Peptide name
Uromodulin
7pfp A 92 A 94
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8226528
seq distance
0
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8226528
seq distance
0
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.8488703
seq distance
0
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.8488703
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.3227181
seq distance
15
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.3227181
seq distance
15
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.763409
seq distance
14
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.763409
seq distance
14
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.437136
seq distance
15
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.437136
seq distance
15
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.973929
seq distance
9
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.973929
seq distance
9
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.582064
seq distance
28
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.582064
seq distance
28
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.453351
seq distance
34
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.453351
seq distance
34
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.401573
seq distance
18
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.401573
seq distance
18
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.293137
seq distance
40
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.293137
seq distance
40
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.991747
seq distance
32
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.991747
seq distance
32
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.497013
seq distance
41
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.497013
seq distance
41
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.137619
seq distance
26
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.137619
seq distance
26
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
22.276035
seq distance
33
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
22.276035
seq distance
33
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
36.24544
seq distance
56
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
36.24544
seq distance
56
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.45141
seq distance
56
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.45141
seq distance
56
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.858177
seq distance
76
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.858177
seq distance
76
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.235313
seq distance
61
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.235313
seq distance
61
chain
A
D10C
begin
172
end
291
score
100.0
distance
43.665882
seq distance
78
chain
A
D10C
begin
172
end
291
score
100.0
distance
43.665882
seq distance
78
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.52795
seq distance
108
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.52795
seq distance
108
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.24777
seq distance
110
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.24777
seq distance
110
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.960346
seq distance
101
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.960346
seq distance
101
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.03201
seq distance
188
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.03201
seq distance
188
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.03285
seq distance
154
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.03285
seq distance
154
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.73061
seq distance
136
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.73061
seq distance
136
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
67.2677
seq distance
91
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
67.2677
seq distance
91
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
69.90861
seq distance
198
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
69.90861
seq distance
198
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.11443
seq distance
129
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.11443
seq distance
129
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.45436
seq distance
161
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.45436
seq distance
161
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.15064
seq distance
128
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.15064
seq distance
128
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.125244
seq distance
206
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.125244
seq distance
206
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
81.46139
seq distance
221
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
81.46139
seq distance
221
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
83.27879
seq distance
240
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
83.27879
seq distance
240
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
83.27879
seq distance
240
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
83.27879
seq distance
240
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
84.46534
seq distance
222
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
84.46534
seq distance
222
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.23385
seq distance
223
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.23385
seq distance
223
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
88.49138
seq distance
253
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
88.49138
seq distance
253
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
91.66697
seq distance
321
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
91.66697
seq distance
321
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
100.414375
seq distance
327
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
100.414375
seq distance
327
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
100.75006
seq distance
239
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
100.75006
seq distance
239
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
102.93244
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
102.93244
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
104.45138
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
104.45138
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
104.45138
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
104.45138
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
107.87708
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
107.87708
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
112.84555
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
112.84555
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
115.07346
seq distance
336
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
115.07346
seq distance
336
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
116.62705
seq distance
341
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
116.62705
seq distance
341
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
117.91176
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
117.91176
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
118.40281
seq distance
336
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
118.40281
seq distance
336
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
132.81297
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
132.81297
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
134.52414
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
134.52414
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
134.52414
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
D10C
begin
172
end
291
score
100.0
distance
140.74687
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
140.74687
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
140.8252
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
140.8252
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
142.6161
seq distance
360
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
142.6161
seq distance
360
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
144.10242
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
144.10242
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
144.5252
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
144.5252
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
147.86792
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
147.86792
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
148.33023
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
148.33023
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
150.24992
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
150.24992
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
150.94595
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
150.94595
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
152.88754
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
152.88754
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
153.86086
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
153.86086
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
155.07321
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
155.07321
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
155.50763
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
155.50763
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
156.72557
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
156.72557
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
157.35408
seq distance
360
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
157.35408
seq distance
360
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
157.8069
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
157.8069
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
158.46652
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
158.46652
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
158.75566
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
158.75566
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
158.75566
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
158.75566
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
158.94968
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
158.94968
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
159.90965
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
159.90965
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
161.57901
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
161.57901
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
162.29868
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
162.29868
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
162.44193
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
162.44193
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
164.13878
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
164.13878
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
164.74976
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
164.74976
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
165.46985
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
165.46985
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
165.6422
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
165.6422
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
168.32298
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
168.32298
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
169.80023
seq distance
367
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
169.80023
seq distance
367
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
169.87698
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
169.87698
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.18755
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.18755
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
172.34616
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
172.34616
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
172.97337
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
172.97337
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
173.66705
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
173.66705
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
174.50594
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
174.50594
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
175.17378
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
175.17378
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
177.66576
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
177.66576
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.46123
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.46123
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.14838
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.14838
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
182.53741
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
182.53741
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
182.81734
seq distance
461
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
182.81734
seq distance
461
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
182.988
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
182.988
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.83336
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.83336
seq distance
False
chain
C
Details
Redox score
67.46
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
7.51
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
92
Residue number B
94
Peptide name
Uromodulin
7q3n U 77 U 106
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8193717
seq distance
0
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8193717
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8608782
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8608782
seq distance
0
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
3.8647838
seq distance
9
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
3.8647838
seq distance
9
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.563687
seq distance
2
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.563687
seq distance
2
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.603197
seq distance
3
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.603197
seq distance
3
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
10.629185
seq distance
13
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
10.629185
seq distance
13
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.0825815
seq distance
3
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.0825815
seq distance
3
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.843914
seq distance
22
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.843914
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.584898
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.584898
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
17.895111
seq distance
25
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
17.895111
seq distance
25
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
20.019218
seq distance
20
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
20.019218
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.054398
seq distance
29
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.054398
seq distance
29
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.504501
seq distance
18
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.504501
seq distance
18
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.094584
seq distance
14
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.094584
seq distance
14
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.551226
seq distance
42
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.551226
seq distance
42
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.551226
seq distance
42
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.551226
seq distance
42
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
36.773174
seq distance
44
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
36.773174
seq distance
44
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.812
seq distance
44
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.812
seq distance
44
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
38.71253
seq distance
64
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
38.71253
seq distance
64
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
39.188786
seq distance
49
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
39.188786
seq distance
49
chain
U
D10C
begin
172
end
291
score
100.0
distance
44.54873
seq distance
66
chain
U
D10C
begin
172
end
291
score
100.0
distance
44.54873
seq distance
66
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
51.291702
seq distance
96
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
51.291702
seq distance
96
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.88773
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
53.88773
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
57.20867
seq distance
98
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
57.20867
seq distance
98
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
58.135895
seq distance
130
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
64.59313
seq distance
89
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
64.59313
seq distance
89
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.69728
seq distance
142
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.69728
seq distance
142
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.8704
seq distance
176
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.8704
seq distance
176
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
65.39966
seq distance
124
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
65.39966
seq distance
124
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
68.000626
seq distance
79
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
68.000626
seq distance
79
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
70.3682
seq distance
186
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
70.3682
seq distance
186
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
70.46003
seq distance
119
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
70.46003
seq distance
119
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
70.46003
seq distance
119
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
70.46003
seq distance
119
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.90324
seq distance
117
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.90324
seq distance
117
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.293915
seq distance
111
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.293915
seq distance
111
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.293915
seq distance
111
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.293915
seq distance
111
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.90626
seq distance
149
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.90626
seq distance
149
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.87227
seq distance
116
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.87227
seq distance
116
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.76789
seq distance
194
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.76789
seq distance
194
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
82.19266
seq distance
209
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
82.19266
seq distance
209
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
85.2894
seq distance
210
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
85.2894
seq distance
210
chain
U
Details
Redox score
66.48
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
8.41
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
77
Residue number B
106
Peptide name
Uromodulin
7q3n U 148 U 150
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.769257
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8557267
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8557267
seq distance
0
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8557267
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.867791
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.867791
seq distance
20
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.8500314
seq distance
5
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.8500314
seq distance
5
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
8.296347
seq distance
13
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
8.296347
seq distance
13
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
10.165129
seq distance
28
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
10.165129
seq distance
28
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
11.048738
seq distance
22
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
11.048738
seq distance
22
chain
U
D10C
begin
172
end
291
score
100.0
distance
11.544677
seq distance
22
chain
U
D10C
begin
172
end
291
score
100.0
distance
11.544677
seq distance
22
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.507955
seq distance
52
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.507955
seq distance
52
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.26567
seq distance
20
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.26567
seq distance
20
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.332445
seq distance
36
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.332445
seq distance
36
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.249922
seq distance
51
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.249922
seq distance
51
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.249922
seq distance
41
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.249922
seq distance
41
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
21.12561
seq distance
54
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
21.12561
seq distance
54
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.097805
seq distance
39
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.097805
seq distance
39
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
24.197836
seq distance
86
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.476246
seq distance
80
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.476246
seq distance
80
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.502728
seq distance
98
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.502728
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.711266
seq distance
45
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.711266
seq distance
45
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.615238
seq distance
132
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
29.615238
seq distance
132
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.022364
seq distance
35
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.022364
seq distance
35
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.76342
seq distance
75
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.76342
seq distance
75
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.76342
seq distance
75
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.76342
seq distance
75
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.811092
seq distance
73
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.811092
seq distance
73
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.618732
seq distance
67
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.618732
seq distance
67
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.618732
seq distance
67
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.618732
seq distance
67
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.817673
seq distance
71
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.817673
seq distance
71
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
35.86088
seq distance
142
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
35.86088
seq distance
142
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.90837
seq distance
105
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.90837
seq distance
105
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.76365
seq distance
72
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.76365
seq distance
72
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.137413
seq distance
45
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.137413
seq distance
45
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.62712
seq distance
84
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.62712
seq distance
84
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.793255
seq distance
150
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.793255
seq distance
150
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
45.872032
seq distance
165
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
45.872032
seq distance
165
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.119957
seq distance
96
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.119957
seq distance
96
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
48.742287
seq distance
166
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
48.742287
seq distance
166
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
50.923653
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
50.923653
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
52.448
seq distance
89
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
52.448
seq distance
89
chain
U
Details
Redox score
66.45
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
8.25
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
148
Residue number B
150
Peptide name
Uromodulin
7pfp A 77 A 94
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8331378
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
2.8331378
seq distance
0
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8331378
seq distance
0
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8331378
seq distance
0
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.8488703
seq distance
0
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
2.8488703
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.763409
seq distance
14
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.763409
seq distance
14
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.437136
seq distance
15
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
10.437136
seq distance
15
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.25884
seq distance
13
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.25884
seq distance
13
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.539466
seq distance
9
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
11.539466
seq distance
9
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.453351
seq distance
34
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.453351
seq distance
34
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.401573
seq distance
18
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.401573
seq distance
18
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.037989
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.037989
seq distance
25
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.991747
seq distance
32
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
19.991747
seq distance
32
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.497013
seq distance
41
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
21.497013
seq distance
41
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.518318
seq distance
18
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
21.518318
seq distance
18
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.137619
seq distance
26
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
22.137619
seq distance
26
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
31.416788
seq distance
54
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
36.24544
seq distance
56
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
36.24544
seq distance
56
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.45141
seq distance
56
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
36.45141
seq distance
56
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.858177
seq distance
76
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
37.858177
seq distance
76
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.235313
seq distance
61
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.235313
seq distance
61
chain
A
D10C
begin
172
end
291
score
100.0
distance
43.665882
seq distance
78
chain
A
D10C
begin
172
end
291
score
100.0
distance
43.665882
seq distance
78
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.52795
seq distance
108
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
50.52795
seq distance
108
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.24777
seq distance
110
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
56.24777
seq distance
110
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.22571
seq distance
142
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.960346
seq distance
101
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
63.960346
seq distance
101
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.03201
seq distance
188
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
64.03201
seq distance
188
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.03285
seq distance
154
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.03285
seq distance
154
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.73061
seq distance
136
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
64.73061
seq distance
136
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
67.2677
seq distance
91
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
67.2677
seq distance
91
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
69.72867
seq distance
131
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
69.90861
seq distance
198
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
69.90861
seq distance
198
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.11443
seq distance
129
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
70.11443
seq distance
129
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.06902
seq distance
123
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.45436
seq distance
161
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
71.45436
seq distance
161
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.15064
seq distance
128
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
73.15064
seq distance
128
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.125244
seq distance
206
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
81.125244
seq distance
206
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
81.46139
seq distance
221
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
81.46139
seq distance
221
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
83.27879
seq distance
240
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
83.27879
seq distance
240
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
83.27879
seq distance
240
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
83.27879
seq distance
240
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
84.46534
seq distance
222
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
84.46534
seq distance
222
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.23385
seq distance
223
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
88.23385
seq distance
223
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
88.49138
seq distance
253
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
88.49138
seq distance
253
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
91.66697
seq distance
321
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
91.66697
seq distance
321
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
100.414375
seq distance
327
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
100.414375
seq distance
327
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
100.75006
seq distance
239
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
100.75006
seq distance
239
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
102.93244
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
102.93244
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
104.45138
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
104.45138
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
104.45138
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
104.45138
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
107.87708
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
107.87708
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
110.82572
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
112.84555
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
112.84555
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
115.07346
seq distance
336
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
115.07346
seq distance
336
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
116.62705
seq distance
341
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
116.62705
seq distance
341
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
117.91176
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
117.91176
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
118.40281
seq distance
336
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
118.40281
seq distance
336
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
132.81297
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
132.81297
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
134.52414
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
134.52414
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
134.52414
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
134.52414
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
139.59541
seq distance
False
chain
B
D10C
begin
172
end
291
score
100.0
distance
140.74687
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
140.74687
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
140.8252
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
140.8252
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
142.6161
seq distance
360
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
142.6161
seq distance
360
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
144.10242
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
144.10242
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
144.5252
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
144.5252
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
145.28145
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
147.86792
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
147.86792
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
148.33023
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
148.33023
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
150.24992
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
150.24992
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
150.94595
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
150.94595
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
152.88754
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
152.88754
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
152.99031
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
153.86086
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
153.86086
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
155.07321
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
155.07321
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
155.50763
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
155.50763
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
156.72557
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
156.72557
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
157.35408
seq distance
360
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
157.35408
seq distance
360
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
157.8069
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
157.8069
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
158.46652
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
158.46652
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
158.75566
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
158.75566
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
158.75566
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
158.75566
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
158.94968
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
158.94968
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
159.90965
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
159.90965
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
160.87833
seq distance
492
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
161.57901
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
161.57901
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
161.5895
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
162.29868
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
162.29868
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
162.44193
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
162.44193
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
162.7098
seq distance
364
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
164.13878
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
164.13878
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
164.74976
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
164.74976
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
165.46985
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
165.46985
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
165.6422
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
165.6422
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
167.94704
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
168.32298
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
168.32298
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
169.80023
seq distance
367
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
169.80023
seq distance
367
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
169.87698
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
169.87698
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.18755
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.18755
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
172.34616
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
172.34616
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
172.97337
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
172.97337
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
173.66705
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
173.66705
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
174.50594
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
174.50594
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
175.17378
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
175.17378
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
177.66576
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
177.66576
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.46123
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
181.46123
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.14838
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.14838
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
182.53741
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
182.53741
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
182.81734
seq distance
461
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
182.81734
seq distance
461
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
182.988
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
182.988
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.83336
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.83336
seq distance
False
chain
C
Details
Redox score
66.44
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.26
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
77
Residue number B
94
Peptide name
Uromodulin
7pfp A 137 A 150
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.803262
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.803262
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8267567
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
2.8267567
seq distance
0
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8267567
seq distance
0
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8267567
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.373838
seq distance
2
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.373838
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.373838
seq distance
2
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.373838
seq distance
2
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.9134235
seq distance
20
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
4.9134235
seq distance
20
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.66592
seq distance
5
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
6.66592
seq distance
5
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.171629
seq distance
2
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.171629
seq distance
2
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.367722
seq distance
17
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.367722
seq distance
17
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.505259
seq distance
11
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.505259
seq distance
11
chain
A
D10C
begin
172
end
291
score
100.0
distance
11.264089
seq distance
22
chain
A
D10C
begin
172
end
291
score
100.0
distance
11.264089
seq distance
22
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.052772
seq distance
52
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.052772
seq distance
52
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.680098
seq distance
9
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.680098
seq distance
9
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.091131
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.091131
seq distance
25
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.586143
seq distance
54
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.586143
seq distance
54
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.90847
seq distance
40
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.90847
seq distance
40
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.90847
seq distance
30
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.90847
seq distance
30
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.995441
seq distance
28
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.995441
seq distance
28
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
24.03475
seq distance
86
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.158264
seq distance
98
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.158264
seq distance
98
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.179577
seq distance
80
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.179577
seq distance
80
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.269855
seq distance
45
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
28.269855
seq distance
45
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.851604
seq distance
132
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
28.851604
seq distance
132
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
30.681631
seq distance
35
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
30.681631
seq distance
35
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.24691
seq distance
75
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.24691
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
33.24691
seq distance
75
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
33.24691
seq distance
75
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.311604
seq distance
73
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
33.311604
seq distance
73
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.79005
seq distance
67
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.79005
seq distance
67
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.79005
seq distance
67
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.79005
seq distance
67
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.381744
seq distance
60
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.381744
seq distance
60
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.785995
seq distance
105
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
35.785995
seq distance
105
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
35.95566
seq distance
142
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
35.95566
seq distance
142
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.320953
seq distance
72
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
36.320953
seq distance
72
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.70418
seq distance
34
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.70418
seq distance
34
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.13376
seq distance
73
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.13376
seq distance
73
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.690273
seq distance
165
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.690273
seq distance
165
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.704967
seq distance
150
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.704967
seq distance
150
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.092358
seq distance
85
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.092358
seq distance
85
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
46.577763
seq distance
184
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
46.577763
seq distance
184
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.577763
seq distance
184
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.577763
seq distance
184
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
48.40163
seq distance
166
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
48.40163
seq distance
166
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.910748
seq distance
78
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.910748
seq distance
78
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
51.94714
seq distance
197
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
51.94714
seq distance
197
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
52.136543
seq distance
167
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
52.136543
seq distance
167
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.49732
seq distance
265
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
55.49732
seq distance
265
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.97421
seq distance
271
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
63.97421
seq distance
271
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
64.77412
seq distance
183
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
64.77412
seq distance
183
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
66.27808
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
66.27808
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.813644
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.813644
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.09102
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.09102
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
72.67775
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
72.67775
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.49832
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
77.49832
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.49832
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
77.49832
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.358665
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.358665
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
82.8623
seq distance
280
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
82.8623
seq distance
280
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.91165
seq distance
280
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
83.91165
seq distance
280
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
84.17515
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
84.17515
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.27119
seq distance
285
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.27119
seq distance
285
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.15118
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.15118
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
103.29115
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
103.29115
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
103.29115
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
103.29115
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
103.973854
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
103.973854
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.207016
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
107.207016
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.207016
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
107.207016
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
107.382484
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
107.382484
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
107.382484
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
107.382484
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
110.37295
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
110.37295
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
111.93186
seq distance
304
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
111.93186
seq distance
304
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.270966
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.270966
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.270966
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.270966
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
114.049805
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
114.049805
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
115.87193
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
115.87193
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
116.66435
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
116.66435
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.36554
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
117.36554
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
118.89361
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
118.89361
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
119.53848
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
119.53848
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
121.387566
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
121.387566
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
121.387566
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
121.387566
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.447296
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.447296
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
122.79047
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
122.79047
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
124.130196
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
124.130196
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
124.21509
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
124.21509
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
124.914375
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
124.914375
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
125.486084
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
125.486084
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
125.873634
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
125.873634
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
125.89664
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
125.89664
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
126.543724
seq distance
304
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
126.543724
seq distance
304
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
127.28063
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
127.28063
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
127.28063
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
127.28063
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.644684
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
127.644684
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
128.67726
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
128.67726
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
128.67726
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
128.67726
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
131.0017
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
131.0017
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
131.16362
seq distance
308
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
131.16362
seq distance
308
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
131.16362
seq distance
308
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
131.16362
seq distance
308
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
131.39308
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
131.39308
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
131.47083
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
131.47083
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78563
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78563
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
132.34982
seq distance
436
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
132.34982
seq distance
436
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
132.34982
seq distance
436
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
132.34982
seq distance
436
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
132.40163
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
132.40163
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
132.43008
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
132.43008
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
134.0949
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
134.0949
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
135.19217
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
135.19217
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.34807
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
137.37125
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
137.37125
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
137.71939
seq distance
311
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
137.71939
seq distance
311
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
138.72322
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
138.72322
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
138.84822
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
138.84822
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
140.39928
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
140.39928
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
141.00415
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
141.00415
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
141.2006
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
141.2006
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
143.25014
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
143.25014
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
147.11832
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
147.11832
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
147.43625
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
147.43625
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
147.93855
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
147.93855
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
148.89053
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
148.89053
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
152.64944
seq distance
405
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
152.64944
seq distance
405
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
156.78894
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
156.78894
seq distance
False
chain
C
Details
Redox score
66.44
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.5
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
137
Residue number B
150
Peptide name
Uromodulin
7pfp C 69 C 92
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8000793
seq distance
0
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8000793
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
8
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
8
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.4702554
seq distance
1
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
6.4702554
seq distance
1
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.826049
seq distance
5
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
7.826049
seq distance
5
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
11
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.635202
seq distance
17
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
15.635202
seq distance
17
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.695897
seq distance
16
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
15.695897
seq distance
16
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.907883
seq distance
17
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.907883
seq distance
17
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
17.802385
seq distance
10
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
17.802385
seq distance
10
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.270367
seq distance
36
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
21.270367
seq distance
36
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.1608
seq distance
20
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
22.1608
seq distance
20
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.968925
seq distance
34
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
25.968925
seq distance
34
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.706308
seq distance
28
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
26.706308
seq distance
28
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.991545
seq distance
43
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
26.991545
seq distance
43
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
36.45978
seq distance
56
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.560036
seq distance
58
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
40.560036
seq distance
58
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.02007
seq distance
58
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
42.02007
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.32811
seq distance
78
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
43.32811
seq distance
78
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.335716
seq distance
63
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
44.335716
seq distance
63
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.10001
seq distance
80
chain
C
D10C
begin
172
end
291
score
100.0
distance
49.10001
seq distance
80
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.688904
seq distance
110
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
55.688904
seq distance
110
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.31525
seq distance
112
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
61.31525
seq distance
112
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
63.452335
seq distance
144
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.58828
seq distance
103
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
68.58828
seq distance
103
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.63626
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.63626
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.63626
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.63626
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.78647
seq distance
190
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
68.78647
seq distance
190
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
69.62916
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
69.62916
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
69.62916
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
69.62916
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
69.91005
seq distance
156
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
69.91005
seq distance
156
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.44863
seq distance
138
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
70.44863
seq distance
138
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.19459
seq distance
93
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
72.19459
seq distance
93
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
72.59542
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
74.652824
seq distance
133
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
75.131386
seq distance
200
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
75.131386
seq distance
200
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.19619
seq distance
131
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
75.19619
seq distance
131
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.7116
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.7116
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
76.9327
seq distance
125
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.36298
seq distance
163
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
77.36298
seq distance
163
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.323906
seq distance
130
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
78.323906
seq distance
130
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
78.673256
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
78.673256
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.64237
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.64237
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.64237
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.64237
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
83.16241
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
83.16241
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
85.4075
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
85.4075
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.18189
seq distance
208
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
86.18189
seq distance
208
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
86.92385
seq distance
223
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
86.92385
seq distance
223
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
88.08909
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
88.08909
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
88.178734
seq distance
242
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
88.178734
seq distance
242
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.178734
seq distance
242
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
88.178734
seq distance
242
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
89.1525
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
89.19279
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
89.19279
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.96873
seq distance
224
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.96873
seq distance
224
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
93.67473
seq distance
255
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
93.67473
seq distance
255
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
93.703125
seq distance
225
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
93.703125
seq distance
225
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.28662
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
94.28662
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.57892
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
95.57892
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
95.84724
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
95.84724
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.58953
seq distance
323
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
96.58953
seq distance
323
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
97.18093
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
97.18093
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.88726
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
100.88726
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
103.50722
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
103.50722
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.009315
seq distance
329
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
105.009315
seq distance
329
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.24906
seq distance
241
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
105.24906
seq distance
241
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.98219
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
105.98219
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
107.70268
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
107.70268
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
108.068085
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
108.068085
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
108.56387
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
108.56387
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
109.098885
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
110.88289
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
110.88289
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
111.14153
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
111.14153
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.560326
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
111.560326
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
111.6716
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
111.6716
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
112.81873
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
112.81873
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
113.107635
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
113.107635
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
113.47075
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
113.47075
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
113.86243
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
113.86243
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
114.153366
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
114.71953
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
115.68417
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
115.68417
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.43854
seq distance
338
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
118.43854
seq distance
338
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
118.7011
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
118.7011
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
119.29867
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
119.29867
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
119.930534
seq distance
343
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
119.930534
seq distance
343
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.11132
seq distance
338
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
122.11132
seq distance
338
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
126.640144
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
126.640144
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
129.6238
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
129.6238
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
133.165
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
135.8499
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
135.8499
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
136.54909
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
136.54909
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
141.42426
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
141.42426
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
141.87622
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
141.87622
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
142.19612
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
142.36827
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
142.36827
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
143.34232
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
143.34232
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
145.44705
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
155.13562
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
155.13562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
155.29912
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
155.29912
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
158.62357
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
158.62357
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
163.6253
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
163.6253
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
164.15407
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
164.15407
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
167.98195
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
167.98195
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
167.98195
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
167.98195
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
172.28099
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
172.28099
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
175.561
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
175.561
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
180.58775
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
180.58775
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.46838
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
182.46838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
186.1843
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
186.1843
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
187.4631
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
187.4631
seq distance
False
chain
A
Details
Redox score
66.39
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.17
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
69
Residue number B
92
Peptide name
Uromodulin
7pfp C 92 C 106
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8408284
seq distance
0
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
2.8408284
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
15
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
3.2433522
seq distance
15
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
3.9664254
seq distance
1
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
3.9664254
seq distance
1
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.654955
seq distance
2
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
8.654955
seq distance
2
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
3
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
10.90119
seq distance
3
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.018144
seq distance
3
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
11.018144
seq distance
3
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.472408
seq distance
28
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
11.472408
seq distance
28
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.961654
seq distance
22
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
14.961654
seq distance
22
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
17.487665
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
17.487665
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.193647
seq distance
40
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
18.193647
seq distance
40
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
20.814686
seq distance
20
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
20.814686
seq distance
20
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
22.02224
seq distance
33
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
22.02224
seq distance
33
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
22.111368
seq distance
29
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
22.111368
seq distance
29
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
23.219091
seq distance
14
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
23.219091
seq distance
14
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
32.167347
seq distance
42
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
32.167347
seq distance
42
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
32.167347
seq distance
42
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
32.167347
seq distance
42
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
37.299747
seq distance
44
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
37.299747
seq distance
44
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
37.299747
seq distance
44
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
37.299747
seq distance
44
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
38.871872
seq distance
64
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
38.871872
seq distance
64
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.91168
seq distance
49
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
38.91168
seq distance
49
chain
C
D10C
begin
172
end
291
score
100.0
distance
44.6922
seq distance
66
chain
C
D10C
begin
172
end
291
score
100.0
distance
44.6922
seq distance
66
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
51.597027
seq distance
96
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
51.597027
seq distance
96
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
57.373207
seq distance
98
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
57.373207
seq distance
98
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
57.8025
seq distance
130
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.63749
seq distance
142
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
64.63749
seq distance
142
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
65.00872
seq distance
176
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
65.00872
seq distance
176
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
65.05865
seq distance
89
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
65.05865
seq distance
89
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
65.47879
seq distance
124
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
65.47879
seq distance
124
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
68.03967
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
68.03967
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
68.03967
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
68.03967
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.26605
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
68.26605
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.26605
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
68.26605
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
68.3751
seq distance
79
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
68.3751
seq distance
79
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
70.33938
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
70.33938
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.33938
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
70.33938
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
70.74604
seq distance
119
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
70.74604
seq distance
119
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
70.74604
seq distance
119
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
70.74604
seq distance
119
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
70.96439
seq distance
186
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
70.96439
seq distance
186
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
71.13113
seq distance
117
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
71.13113
seq distance
117
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.72794
seq distance
111
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.72794
seq distance
111
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
71.72794
seq distance
111
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
71.72794
seq distance
111
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
72.00595
seq distance
149
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
72.00595
seq distance
149
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
74.10794
seq distance
116
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
74.10794
seq distance
116
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.02317
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
75.02317
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.6152
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
79.6152
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.6152
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
79.6152
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
82.23041
seq distance
194
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
82.23041
seq distance
194
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
82.39382
seq distance
209
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
82.39382
seq distance
209
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
83.23778
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
83.23778
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
84.35356
seq distance
228
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
84.35356
seq distance
228
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
84.35356
seq distance
228
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
84.35356
seq distance
228
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
85.37006
seq distance
210
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
85.37006
seq distance
210
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.11985
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
87.11985
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
87.56342
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
87.56342
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
88.780716
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
88.780716
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
88.780716
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
88.780716
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
89.149254
seq distance
211
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
89.149254
seq distance
211
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
89.50753
seq distance
241
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
89.50753
seq distance
241
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
92.31975
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
92.31975
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
92.345085
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
92.345085
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
92.588646
seq distance
309
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
92.588646
seq distance
309
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.85173
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.85173
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
93.810165
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
93.810165
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
94.1325
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
94.1325
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
101.57754
seq distance
315
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
101.57754
seq distance
315
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
102.00961
seq distance
227
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
102.00961
seq distance
227
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
102.018364
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
102.018364
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.47377
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
105.47377
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
105.940895
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
105.940895
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
108.18752
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
108.18752
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
109.2351
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
109.2351
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
110.51104
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
110.51104
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
112.33582
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
112.33582
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
112.33582
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
112.33582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
113.204544
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
113.204544
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
113.41585
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
113.41585
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
114.352554
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
114.352554
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
114.352554
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
114.352554
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
114.46233
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
114.46233
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
115.097435
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
115.097435
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
115.95434
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
115.95434
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
116.26334
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
116.26334
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
116.69997
seq distance
324
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
116.69997
seq distance
324
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
118.12276
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
118.12276
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
118.26749
seq distance
329
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
118.26749
seq distance
329
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
118.32015
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
118.32015
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
118.519684
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
118.519684
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
119.363106
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
119.363106
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
119.90617
seq distance
324
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
119.90617
seq distance
324
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
120.29486
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
120.29486
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
120.29486
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
120.29486
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.219475
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
124.219475
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
125.07917
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
125.07917
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
131.03168
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
131.03168
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
134.32532
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
134.32532
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
134.4356
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
134.4356
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
138.4606
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
140.91946
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
140.91946
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
141.15085
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
141.15085
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
141.15085
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
141.15085
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
146.5525
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
146.5525
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
146.81668
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
146.81668
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
147.05473
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
147.05473
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
148.55405
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
148.55405
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
150.26945
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
150.26945
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
150.26945
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
150.26945
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.47742
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.47742
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
160.09975
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
160.09975
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
163.31177
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
163.31177
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
168.06139
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
168.06139
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
169.02684
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
169.02684
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.64879
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.64879
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.64879
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.64879
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.87094
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.87094
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
178.14621
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
178.14621
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
184.95175
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
184.95175
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
185.50064
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
185.50064
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.49118
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.49118
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
190.61684
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
190.61684
seq distance
False
chain
A
Details
Redox score
66.28
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.48
Half-sphere exposure sum
53
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
92
Residue number B
106
Peptide name
Uromodulin
7pfp C 135 C 137
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.817475
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.817475
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817475
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817475
seq distance
0
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.4135394
seq distance
15
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.4135394
seq distance
15
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
5.3642836
seq distance
9
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
5.3642836
seq distance
9
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
8.151606
seq distance
13
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
8.151606
seq distance
13
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
8.151606
seq distance
13
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
8.151606
seq distance
13
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
9.206881
seq distance
23
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
9.206881
seq distance
23
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.40752
seq distance
7
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.40752
seq distance
7
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.577239
seq distance
33
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.577239
seq distance
33
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.762844
seq distance
18
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.762844
seq distance
18
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.872047
seq distance
38
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.872047
seq distance
38
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.872047
seq distance
28
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.872047
seq distance
28
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.774437
seq distance
26
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
16.774437
seq distance
26
chain
C
D10C
begin
172
end
291
score
100.0
distance
18.48982
seq distance
35
chain
C
D10C
begin
172
end
291
score
100.0
distance
18.48982
seq distance
35
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.973232
seq distance
65
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.973232
seq distance
65
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.537537
seq distance
58
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.537537
seq distance
58
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.407028
seq distance
67
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.407028
seq distance
67
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.443703
seq distance
32
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
30.443703
seq distance
32
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.766273
seq distance
71
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.766273
seq distance
71
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.98588
seq distance
111
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.98588
seq distance
111
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
36.304695
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
36.304695
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.393898
seq distance
145
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.393898
seq distance
145
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.60689
seq distance
93
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.60689
seq distance
93
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.67914
seq distance
83
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.67914
seq distance
83
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.526234
seq distance
48
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.526234
seq distance
48
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.52414
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.52414
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.52414
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.52414
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
42.054947
seq distance
86
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
42.054947
seq distance
86
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.489822
seq distance
118
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.489822
seq distance
118
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.548985
seq distance
76
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.548985
seq distance
76
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
44.416344
seq distance
155
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
44.416344
seq distance
155
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.960712
seq distance
85
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.960712
seq distance
85
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
47.019966
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
47.019966
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.019966
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.019966
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.35183
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.35183
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
54.463566
seq distance
178
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
54.463566
seq distance
178
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.518784
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.518784
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.518784
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.518784
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
54.543648
seq distance
163
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
54.543648
seq distance
163
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
55.335114
seq distance
197
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
55.335114
seq distance
197
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
55.335114
seq distance
197
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
55.335114
seq distance
197
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
57.188244
seq distance
179
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
57.188244
seq distance
179
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
60.844856
seq distance
210
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
60.844856
seq distance
210
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
60.940166
seq distance
180
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
60.940166
seq distance
180
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
63.02924
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
63.02924
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
63.612667
seq distance
278
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
63.612667
seq distance
278
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.6561
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.6561
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
63.663445
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
63.663445
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.84545
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.84545
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.3564
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.3564
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
72.67062
seq distance
284
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
72.67062
seq distance
284
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
73.638794
seq distance
196
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
73.638794
seq distance
196
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
79.34532
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
79.34532
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
81.41322
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
81.41322
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
89.37356
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
89.37356
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
91.24198
seq distance
293
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
91.24198
seq distance
293
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
92.52948
seq distance
293
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
92.52948
seq distance
293
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.60216
seq distance
298
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.60216
seq distance
298
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
109.389404
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
109.389404
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
Details
Redox score
66.09
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.65
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
135
Residue number B
137
Peptide name
Uromodulin
7pfp A 148 A 170
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.7956314
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7956314
seq distance
0
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.7956314
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8170094
seq distance
0
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8170094
seq distance
0
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8170094
seq distance
0
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8170094
seq distance
0
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.7531266
seq distance
7
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.7531266
seq distance
7
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.9819694
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.9819694
seq distance
2
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.7793016
seq distance
13
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.7793016
seq distance
13
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
8.741912
seq distance
28
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
8.741912
seq distance
28
chain
A
D10C
begin
172
end
291
score
100.0
distance
8.940852
seq distance
2
chain
A
D10C
begin
172
end
291
score
100.0
distance
8.940852
seq distance
2
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.555754
seq distance
22
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.555754
seq distance
22
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.665746
seq distance
32
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.665746
seq distance
32
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.913527
seq distance
36
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
15.913527
seq distance
36
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.27363
seq distance
20
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.27363
seq distance
20
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.429821
seq distance
34
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.429821
seq distance
34
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.499731
seq distance
51
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.499731
seq distance
51
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
21.499731
seq distance
41
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
21.499731
seq distance
41
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
22.004028
seq distance
66
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.231556
seq distance
39
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.231556
seq distance
39
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.463932
seq distance
60
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.463932
seq distance
60
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.721918
seq distance
78
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.721918
seq distance
78
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
30.408468
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
30.408468
seq distance
25
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
31.227932
seq distance
112
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
31.227932
seq distance
112
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.500744
seq distance
15
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.500744
seq distance
15
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
34.219383
seq distance
53
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
34.219383
seq distance
53
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
34.692
seq distance
122
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
34.692
seq distance
122
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
34.748867
seq distance
55
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
34.748867
seq distance
55
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
34.748867
seq distance
55
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
34.748867
seq distance
55
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.93249
seq distance
47
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.93249
seq distance
47
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.93249
seq distance
47
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.93249
seq distance
47
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.923447
seq distance
71
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.923447
seq distance
71
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
36.396046
seq distance
85
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
36.396046
seq distance
85
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
37.259632
seq distance
52
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
37.259632
seq distance
52
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
39.018196
seq distance
45
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
39.018196
seq distance
45
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.335785
seq distance
84
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.335785
seq distance
84
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.030354
seq distance
145
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.030354
seq distance
145
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.207966
seq distance
130
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.207966
seq distance
130
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.052254
seq distance
96
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
46.052254
seq distance
96
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
47.437016
seq distance
164
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
47.437016
seq distance
164
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.437016
seq distance
164
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.437016
seq distance
164
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
47.893562
seq distance
146
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
47.893562
seq distance
146
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
51.668396
seq distance
147
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
51.668396
seq distance
147
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
52.017124
seq distance
177
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
52.017124
seq distance
177
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
52.07514
seq distance
89
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
52.07514
seq distance
89
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
57.02499
seq distance
245
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
57.02499
seq distance
245
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
64.99331
seq distance
251
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
64.99331
seq distance
251
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
65.27399
seq distance
163
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
65.27399
seq distance
163
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
67.36716
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
67.36716
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.68449
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
69.68449
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.94496
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.94496
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
73.26208
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
73.26208
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
78.10784
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
78.10784
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
78.10784
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
78.10784
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.83482
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.83482
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
83.018814
seq distance
260
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
83.018814
seq distance
260
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.53622
seq distance
265
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.53622
seq distance
265
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
84.632805
seq distance
260
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
84.632805
seq distance
260
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
85.3732
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
85.3732
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.257164
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.257164
seq distance
False
chain
B
ZP-N
begin
334
end
429
score
100.0
distance
103.55918
seq distance
False
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
103.55918
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
103.55918
seq distance
False
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
103.55918
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
104.28397
seq distance
False
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
104.28397
seq distance
False
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
108.21985
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
108.21985
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
108.21985
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
108.21985
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
108.416725
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
108.416725
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
108.416725
seq distance
False
chain
C
D10C
begin
172
end
291
score
100.0
distance
108.416725
seq distance
False
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
110.7299
seq distance
284
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
110.7299
seq distance
284
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
111.28348
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
111.28348
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
113.05885
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
113.05885
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
113.05885
seq distance
False
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
113.05885
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.81522
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.81522
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
116.59122
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
116.59122
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
117.770256
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
117.770256
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
118.10802
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
118.10802
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.09155
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
120.09155
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
120.27723
seq distance
False
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
120.27723
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
122.36829
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
122.36829
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
122.36829
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
122.36829
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
122.498695
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
122.498695
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
123.81576
seq distance
False
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
123.81576
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
124.12975
seq distance
False
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
124.12975
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
125.73022
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
125.73022
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
125.82749
seq distance
False
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
125.82749
seq distance
False
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
125.906235
seq distance
284
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
125.906235
seq distance
284
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
126.07723
seq distance
False
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
126.07723
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
126.1311
seq distance
False
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
126.1311
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
127.49011
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
127.49011
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.645744
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.645744
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
127.645744
seq distance
False
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
127.645744
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
128.6147
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
128.6147
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
128.92802
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
128.92802
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
128.92802
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
128.92802
seq distance
False
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
130.29237
seq distance
288
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
130.29237
seq distance
288
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
130.29237
seq distance
288
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
130.29237
seq distance
288
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
130.49786
seq distance
416
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
130.49786
seq distance
416
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
130.49786
seq distance
416
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
130.49786
seq distance
416
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
131.43964
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
131.43964
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
131.81187
seq distance
False
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
131.81187
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
132.75526
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
132.75526
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
132.83104
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
132.83104
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
132.91278
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
132.91278
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
133.34547
seq distance
False
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
133.34547
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
135.90703
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
135.90703
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
136.57288
seq distance
False
chain
C
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
136.74951
seq distance
291
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
136.74951
seq distance
291
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
136.87799
seq distance
False
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
136.87799
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
139.33255
seq distance
False
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
139.33255
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
140.02303
seq distance
False
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
140.02303
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
140.51418
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
140.51418
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
140.79973
seq distance
False
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
140.79973
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
142.4088
seq distance
False
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
142.4088
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
143.13907
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
143.13907
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
145.04417
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
145.04417
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
148.99226
seq distance
False
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
148.99226
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
149.58482
seq distance
False
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
149.58482
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
149.9409
seq distance
False
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
149.9409
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
150.8454
seq distance
False
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
150.8454
seq distance
False
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
151.31732
seq distance
385
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
151.31732
seq distance
385
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.88889
seq distance
False
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.88889
seq distance
False
chain
C
Details
Redox score
65.43
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.7
Half-sphere exposure sum
68
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
148
Residue number B
170
Peptide name
Uromodulin
7pfp C 217 C 256
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
3.924774
seq distance
8
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
3.924774
seq distance
8
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
1
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
1
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
8.617518
seq distance
13
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
8.617518
seq distance
13
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
78
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
78
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
78
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
78
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
36
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
36
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.310932
seq distance
26
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.310932
seq distance
26
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.592552
seq distance
22
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.592552
seq distance
22
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
60
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
60
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
59
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
59
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.009628
seq distance
15
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.009628
seq distance
15
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.460297
seq distance
13
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.460297
seq distance
13
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
91
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
91
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
61
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
61
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
23.426441
seq distance
46
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
23.426441
seq distance
46
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
44
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
44
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
159
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
159
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.798372
seq distance
62
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.798372
seq distance
62
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.185167
seq distance
67
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.185167
seq distance
67
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.837887
seq distance
68
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.837887
seq distance
68
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.226957
seq distance
47
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.226957
seq distance
47
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
165
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
165
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
37.276913
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
37.276913
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
77
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
77
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.42809
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.42809
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.905952
seq distance
82
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.905952
seq distance
82
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.553772
seq distance
97
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.553772
seq distance
97
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.97484
seq distance
91
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.97484
seq distance
91
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.911644
seq distance
89
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.911644
seq distance
89
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
52.334015
seq distance
105
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
52.334015
seq distance
105
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.534805
seq distance
120
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.534805
seq distance
120
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.534805
seq distance
110
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.534805
seq distance
110
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.86149
seq distance
108
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.86149
seq distance
108
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
174
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
174
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
174
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
174
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
179
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
179
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.13108
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.13108
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19339
seq distance
140
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19339
seq distance
140
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.39049
seq distance
114
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.39049
seq distance
114
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.264786
seq distance
153
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.264786
seq distance
153
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.257515
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.257515
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.23628
seq distance
165
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.23628
seq distance
165
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
84.68222
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
84.68222
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.92705
seq distance
158
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.92705
seq distance
158
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
91.517624
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
91.517624
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.21964
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.21964
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.44705
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.44705
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.768234
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.768234
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
98.63148
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
98.63148
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.17537
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.17537
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.40739
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.40739
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
105.8719
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
105.8719
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.462746
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.462746
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
120.80014
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
120.80014
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
120.82348
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
120.82348
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.30847
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.30847
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
144.91112
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
144.91112
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.74292
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.74292
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.09132
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.09132
seq distance
False
chain
A
Details
Redox score
65.12
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.58
Half-sphere exposure sum
57
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
217
Residue number B
256
Peptide name
Uromodulin
7pfp C 120 C 137
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.817689
seq distance
0
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.817689
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817689
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817689
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.510343
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.510343
seq distance
2
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.8134885
seq distance
6
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.8134885
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
7.4607844
seq distance
8
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
7.4607844
seq distance
8
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
8.151606
seq distance
13
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
8.151606
seq distance
13
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
8.151606
seq distance
13
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
8.151606
seq distance
13
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
8.595127
seq distance
8
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
8.595127
seq distance
8
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.577239
seq distance
33
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.577239
seq distance
33
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.762844
seq distance
18
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.762844
seq distance
18
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.791223
seq distance
23
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.791223
seq distance
23
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.791223
seq distance
13
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.791223
seq distance
13
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.555478
seq distance
11
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.555478
seq distance
11
chain
C
D10C
begin
172
end
291
score
100.0
distance
18.48982
seq distance
35
chain
C
D10C
begin
172
end
291
score
100.0
distance
18.48982
seq distance
35
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.973232
seq distance
65
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.973232
seq distance
65
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.430746
seq distance
43
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.430746
seq distance
43
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.407028
seq distance
67
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.407028
seq distance
67
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.653479
seq distance
17
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.653479
seq distance
17
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
31.020428
seq distance
56
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
31.020428
seq distance
56
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.442984
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.98588
seq distance
111
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.98588
seq distance
111
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
36.304695
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
36.304695
seq distance
58
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.393898
seq distance
145
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.393898
seq distance
145
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.60689
seq distance
93
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.60689
seq distance
93
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.719913
seq distance
68
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.719913
seq distance
68
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.49537
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.526234
seq distance
48
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.526234
seq distance
48
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.52414
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.52414
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.52414
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.52414
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.66561
seq distance
88
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
42.054947
seq distance
86
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
42.054947
seq distance
86
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
43.03915
seq distance
80
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.489822
seq distance
118
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.489822
seq distance
118
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.743786
seq distance
61
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.743786
seq distance
61
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
44.416344
seq distance
155
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
44.416344
seq distance
155
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.960712
seq distance
85
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.960712
seq distance
85
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
47.019966
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
47.019966
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.019966
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
47.019966
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.35183
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.35183
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
54.463566
seq distance
178
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
54.463566
seq distance
178
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.518784
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.518784
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.518784
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.518784
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
54.543648
seq distance
163
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
54.543648
seq distance
163
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
55.335114
seq distance
197
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
55.335114
seq distance
197
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
55.335114
seq distance
197
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
55.335114
seq distance
197
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
57.188244
seq distance
179
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
57.188244
seq distance
179
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
60.844856
seq distance
210
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
60.844856
seq distance
210
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
60.940166
seq distance
180
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
60.940166
seq distance
180
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
63.02924
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
63.02924
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.36192
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
63.612667
seq distance
278
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
63.612667
seq distance
278
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.6561
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.6561
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
63.663445
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
63.663445
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.84545
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.84545
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.3564
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.3564
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
72.67062
seq distance
284
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
72.67062
seq distance
284
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
73.638794
seq distance
196
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
73.638794
seq distance
196
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
79.34532
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
79.34532
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
81.41322
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
81.41322
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
85.86267
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
89.37356
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
89.37356
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
91.24198
seq distance
293
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
91.24198
seq distance
293
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
92.52948
seq distance
293
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
92.52948
seq distance
293
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.60216
seq distance
298
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
92.60216
seq distance
298
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
109.389404
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
109.389404
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
115.22829
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
Details
Redox score
65.11
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
9.49
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
120
Residue number B
137
Peptide name
Uromodulin
7pfp C 50 C 63
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8161354
seq distance
0
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8161354
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
4.408168
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
4.408168
seq distance
2
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
4.6634545
seq distance
4
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
4.6634545
seq distance
4
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.455582
seq distance
2
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.455582
seq distance
2
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
20.31877
seq distance
14
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
20.31877
seq distance
14
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
23.32016
seq distance
30
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
23.32016
seq distance
30
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
27.104773
seq distance
40
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
27.104773
seq distance
40
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.79755
seq distance
45
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
31.79755
seq distance
45
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
35.32006
seq distance
46
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
35.32006
seq distance
46
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
38.229633
seq distance
49
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
38.229633
seq distance
49
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
38.532207
seq distance
65
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
38.532207
seq distance
65
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
39.839863
seq distance
57
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
39.839863
seq distance
57
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
41.53529
seq distance
63
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
41.53529
seq distance
63
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.566845
seq distance
72
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.566845
seq distance
72
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
48.939873
seq distance
85
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
48.939873
seq distance
85
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
48.939873
seq distance
85
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
48.939873
seq distance
85
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
50.541145
seq distance
87
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
50.541145
seq distance
87
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
54.736855
seq distance
87
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
54.736855
seq distance
87
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
56.16043
seq distance
107
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
56.16043
seq distance
107
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
58.527927
seq distance
92
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
58.527927
seq distance
92
chain
C
D10C
begin
172
end
291
score
100.0
distance
61.83034
seq distance
109
chain
C
D10C
begin
172
end
291
score
100.0
distance
61.83034
seq distance
109
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
66.90577
seq distance
139
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
66.90577
seq distance
139
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.29076
seq distance
141
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.29076
seq distance
141
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
75.960014
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
75.960014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
75.960014
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
75.960014
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
76.87487
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
76.87487
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.87487
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
76.87487
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.44762
seq distance
132
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.44762
seq distance
132
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
77.65335
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
77.883484
seq distance
219
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
77.883484
seq distance
219
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
81.42899
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
81.42899
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.07597
seq distance
122
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.07597
seq distance
122
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
82.262726
seq distance
185
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
82.262726
seq distance
185
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
82.46546
seq distance
167
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
82.46546
seq distance
167
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
82.991455
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
82.991455
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
82.991455
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
82.991455
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
83.455475
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
83.455475
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.18462
seq distance
162
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.18462
seq distance
162
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.18462
seq distance
162
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.18462
seq distance
162
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.30516
seq distance
160
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.30516
seq distance
160
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
85.91124
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
85.91124
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
85.91124
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
85.91124
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
86.61491
seq distance
229
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
86.61491
seq distance
229
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
86.71053
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
86.71053
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.54089
seq distance
159
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.54089
seq distance
159
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
89.19635
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
89.19635
seq distance
154
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
89.19635
seq distance
154
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
89.19635
seq distance
154
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
89.58523
seq distance
192
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
89.58523
seq distance
192
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
90.48772
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
90.48772
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
90.49365
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
90.49365
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
93.17297
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
93.17297
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
95.92641
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.63279
seq distance
237
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.63279
seq distance
237
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
97.469795
seq distance
271
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
97.469795
seq distance
271
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
97.469795
seq distance
271
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
97.469795
seq distance
271
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
98.23557
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
98.23557
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
98.39649
seq distance
252
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
98.39649
seq distance
252
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
101.16498
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
101.16498
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
101.40123
seq distance
253
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
101.40123
seq distance
253
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
102.91833
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
102.91833
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.44469
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.44469
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
103.47663
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
103.47663
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.94405
seq distance
284
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
103.94405
seq distance
284
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
104.97609
seq distance
254
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
104.97609
seq distance
254
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
105.44519
seq distance
352
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
105.44519
seq distance
352
chain
C
D10C
begin
172
end
291
score
100.0
distance
107.39444
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
107.39444
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.92667
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
107.92667
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
110.62507
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
110.62507
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
111.04229
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
111.04229
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
112.53989
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
112.72223
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
112.72223
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.06989
seq distance
358
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
113.06989
seq distance
358
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
113.38156
seq distance
270
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
113.38156
seq distance
270
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
113.994446
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
113.994446
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
114.173035
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
114.173035
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
114.32935
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
114.32935
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.92191
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
114.92191
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
116.434265
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
116.434265
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
116.49984
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
117.071976
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
117.071976
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
117.18096
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
117.18096
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.545
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
117.545
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
118.80959
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
118.80959
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
119.11546
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
119.11546
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
119.11546
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
119.11546
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.11649
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
121.11649
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
121.34271
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
121.34271
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
122.97596
seq distance
367
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
122.97596
seq distance
367
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
124.25993
seq distance
372
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
124.25993
seq distance
372
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.87871
seq distance
367
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
127.87871
seq distance
367
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
130.447
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
130.447
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
133.40541
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
133.40541
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
135.36852
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
139.02
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
139.02
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
139.89899
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
139.89899
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
144.0363
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
144.0363
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
144.0363
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
144.0363
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
145.0892
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
145.0892
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
145.86537
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
145.86537
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.19643
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
146.19643
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.58458
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
146.58458
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
149.49838
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
159.37093
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
159.37093
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.62474
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
159.62474
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
162.64659
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
162.64659
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
167.84758
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
167.84758
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
168.04929
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
168.04929
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.29883
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
172.29883
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.29883
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
172.29883
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.34653
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
176.34653
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
182.34271
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
182.34271
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
185.33528
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
185.33528
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
188.73338
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
188.73338
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.68262
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
190.68262
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
193.74368
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
193.74368
seq distance
False
chain
A
Details
Redox score
64.99
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
9.33
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
50
Residue number B
63
Peptide name
Uromodulin
7pfp C 120 C 148
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.817689
seq distance
0
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
2.817689
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817689
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.817689
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.510343
seq distance
13
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
3.510343
seq distance
13
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.8134885
seq distance
6
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
3.8134885
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
7.4607844
seq distance
8
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
7.4607844
seq distance
8
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.702049
seq distance
2
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.702049
seq distance
2
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
7.702049
seq distance
2
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
7.702049
seq distance
2
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
8.595127
seq distance
8
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
8.595127
seq distance
8
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.132771
seq distance
22
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
10.132771
seq distance
22
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.2438965
seq distance
7
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
11.2438965
seq distance
7
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.791223
seq distance
23
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
12.791223
seq distance
23
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.791223
seq distance
13
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
12.791223
seq distance
13
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.555478
seq distance
11
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.555478
seq distance
11
chain
C
D10C
begin
172
end
291
score
100.0
distance
17.044233
seq distance
24
chain
C
D10C
begin
172
end
291
score
100.0
distance
17.044233
seq distance
24
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
21.755465
seq distance
54
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
21.755465
seq distance
54
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.430746
seq distance
43
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
27.430746
seq distance
43
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
28.046204
seq distance
56
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
28.046204
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.653479
seq distance
17
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
29.653479
seq distance
17
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
30.736578
seq distance
88
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
31.020428
seq distance
56
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
31.020428
seq distance
56
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.45416
seq distance
47
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.45416
seq distance
47
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.614113
seq distance
100
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.614113
seq distance
100
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
35.796593
seq distance
134
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
35.796593
seq distance
134
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
35.945435
seq distance
82
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
35.945435
seq distance
82
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.719913
seq distance
68
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
37.719913
seq distance
68
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
38.405617
seq distance
37
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
38.405617
seq distance
37
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.205933
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
39.205933
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.205933
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
39.205933
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
40.824085
seq distance
77
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
40.824085
seq distance
77
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
40.824085
seq distance
77
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
40.824085
seq distance
77
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
41.095394
seq distance
75
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
41.095394
seq distance
75
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.458664
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
41.458664
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.458664
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
41.458664
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.476227
seq distance
69
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.476227
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.476227
seq distance
69
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.476227
seq distance
69
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
43.053204
seq distance
144
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
43.053204
seq distance
144
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.182762
seq distance
107
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.182762
seq distance
107
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.743786
seq distance
61
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.743786
seq distance
61
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.103218
seq distance
74
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.103218
seq distance
74
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
46.765347
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
46.765347
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.765347
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.765347
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.28851
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
50.28851
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
53.24216
seq distance
152
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
53.24216
seq distance
152
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
53.358723
seq distance
167
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
53.358723
seq distance
167
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.08803
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
54.08803
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.08803
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
54.08803
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
54.32427
seq distance
186
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
54.32427
seq distance
186
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
54.32427
seq distance
186
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
54.32427
seq distance
186
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
56.146008
seq distance
168
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
56.146008
seq distance
168
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
59.763744
seq distance
199
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
59.763744
seq distance
199
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
59.890305
seq distance
169
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
59.890305
seq distance
169
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
62.762356
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
62.762356
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
62.837826
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
62.837826
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
62.96338
seq distance
267
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
62.96338
seq distance
267
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.0669
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
63.0669
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.0669
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
63.0669
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.258324
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.258324
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.34026
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
65.34026
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.05688
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
67.05688
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.36004
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.36004
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.106964
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.106964
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
71.6177
seq distance
273
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
71.6177
seq distance
273
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
72.366394
seq distance
185
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
72.366394
seq distance
185
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
77.78575
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
77.78575
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
80.018074
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
80.018074
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.756805
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.756805
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
84.27532
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
84.27532
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
84.27532
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
84.27532
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.43074
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.43074
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.54333
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.54333
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
87.652
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
87.652
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
89.544754
seq distance
282
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
89.544754
seq distance
282
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
90.92474
seq distance
287
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
90.92474
seq distance
287
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
91.07368
seq distance
282
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
91.07368
seq distance
282
chain
C
D10C
begin
172
end
291
score
100.0
distance
91.19899
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.19899
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.50913
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.50913
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.35714
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.35714
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.56754
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.56754
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
96.89432
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
96.89432
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
97.02729
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
97.02729
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.47404
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.47404
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.47404
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.47404
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
99.064735
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
99.064735
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.95765
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.95765
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.58459
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.58459
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.88772
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.88772
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.07312
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.07312
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.07312
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.07312
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.878204
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.878204
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
107.66842
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
107.66842
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.28764
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.28764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.52451
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.52451
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.75985
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.75985
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
113.65303
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
113.65303
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
113.65303
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
113.65303
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
117.107925
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
117.107925
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.02492
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
124.07744
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
124.07744
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.8996
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.8996
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.74461
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.74461
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
131.12843
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
131.12843
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
132.00246
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
132.00246
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.2717
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.2717
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
134.2717
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
134.2717
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.7773
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.7773
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
144.11134
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
144.11134
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.7196
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.7196
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
151.01286
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
151.01286
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.86536
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.86536
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.89403
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.89403
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.89403
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.89403
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
160.03934
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
160.03934
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.93567
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.93567
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
169.33469
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
169.33469
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
169.34282
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
169.34282
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.81332
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.81332
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
175.1786
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
175.1786
seq distance
False
chain
A
Details
Redox score
64.9
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
9.56
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
120
Residue number B
148
Peptide name
Uromodulin
7q3n U 35 U 63
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8333
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8333
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
4.3512654
seq distance
11
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
4.3512654
seq distance
11
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
5.254258
seq distance
4
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
5.254258
seq distance
4
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.746431
seq distance
2
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
8.746431
seq distance
2
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
20.774271
seq distance
14
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
20.774271
seq distance
14
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
22.710855
seq distance
30
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
22.710855
seq distance
30
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.049185
seq distance
40
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
25.049185
seq distance
40
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.300772
seq distance
45
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.300772
seq distance
45
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
33.9582
seq distance
46
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
33.9582
seq distance
46
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
37.07542
seq distance
49
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
37.07542
seq distance
49
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
38.77482
seq distance
65
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
38.77482
seq distance
65
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
38.910465
seq distance
57
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
38.910465
seq distance
57
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
40.895412
seq distance
63
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
40.895412
seq distance
63
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.00127
seq distance
72
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
41.00127
seq distance
72
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
49.20547
seq distance
85
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
49.20547
seq distance
85
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
49.20547
seq distance
85
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
49.20547
seq distance
85
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
50.772232
seq distance
87
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
50.772232
seq distance
87
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
55.01837
seq distance
87
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
55.01837
seq distance
87
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
56.59916
seq distance
107
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
56.59916
seq distance
107
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
59.290615
seq distance
92
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
59.290615
seq distance
92
chain
U
D10C
begin
172
end
291
score
100.0
distance
62.061398
seq distance
109
chain
U
D10C
begin
172
end
291
score
100.0
distance
62.061398
seq distance
109
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.19149
seq distance
139
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
67.19149
seq distance
139
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
72.3521
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
72.3521
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.637085
seq distance
141
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
72.637085
seq distance
141
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.89986
seq distance
132
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.89986
seq distance
132
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
78.076416
seq distance
173
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
78.56964
seq distance
219
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
78.56964
seq distance
219
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.57172
seq distance
122
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
82.57172
seq distance
122
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
82.74389
seq distance
185
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
82.74389
seq distance
185
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
82.78445
seq distance
167
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
82.78445
seq distance
167
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.55832
seq distance
162
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.55832
seq distance
162
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
84.55832
seq distance
162
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
84.55832
seq distance
162
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.63271
seq distance
160
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
85.63271
seq distance
160
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
86.46532
seq distance
229
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
86.46532
seq distance
229
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.85843
seq distance
159
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.85843
seq distance
159
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
89.103966
seq distance
154
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
89.103966
seq distance
154
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
89.103966
seq distance
154
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
89.103966
seq distance
154
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
89.826515
seq distance
192
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
89.826515
seq distance
192
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.50459
seq distance
237
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
96.50459
seq distance
237
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
98.425224
seq distance
252
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
98.425224
seq distance
252
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
101.62962
seq distance
253
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
101.62962
seq distance
253
chain
U
Details
Redox score
64.62
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
9.98
Half-sphere exposure sum
52
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
35
Residue number B
63
Peptide name
Uromodulin
4wrn A 415 A 417
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
15
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
15
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
3.5576966
seq distance
30
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
3.5576966
seq distance
30
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
3.5576966
seq distance
17
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
3.5576966
seq distance
17
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
3.5576966
seq distance
17
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
3.5576966
seq distance
17
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
19.353584
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
19.353584
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
19.353584
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
19.353584
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
19.353584
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
19.353584
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
98
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
98
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
19.983604
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
19.983604
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
20.446218
seq distance
16
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
20.446218
seq distance
16
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.424753
seq distance
104
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.424753
seq distance
104
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
25.576712
seq distance
105
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
25.576712
seq distance
105
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
26.968903
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
26.968903
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
28.101875
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
28.101875
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
34.04327
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
34.04327
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
42.62874
seq distance
113
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
42.62874
seq distance
113
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
42.62874
seq distance
113
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
42.62874
seq distance
113
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
137
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.794918
seq distance
137
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
49.39974
seq distance
118
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
49.39974
seq distance
118
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
49.792805
seq distance
137
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
49.792805
seq distance
137
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.38723
seq distance
254
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.38723
seq distance
254
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
54.787605
seq distance
144
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
54.787605
seq distance
144
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
61.677803
seq distance
281
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
61.677803
seq distance
281
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
61.677803
seq distance
281
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
61.677803
seq distance
281
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
61.856777
seq distance
189
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
61.856777
seq distance
189
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
64.8313
seq distance
285
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
64.8313
seq distance
285
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
65.41506
seq distance
238
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
65.41506
seq distance
238
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
66.36902
seq distance
288
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
66.36902
seq distance
288
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Details
Redox score
64.47
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
9.46
Half-sphere exposure sum
51
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
315 (Residue 415 in this structure)
Residue number B
317 (Residue 417 in this structure)
Peptide name
Uromodulin
7q3n U 135 U 148
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.769257
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.769257
seq distance
0
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.769257
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
2.786155
seq distance
0
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.2484336
seq distance
15
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
3.2484336
seq distance
15
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
5.0004864
seq distance
9
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
5.0004864
seq distance
9
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.689967
seq distance
2
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
7.689967
seq distance
2
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
7.689967
seq distance
2
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
7.689967
seq distance
2
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
8.270699
seq distance
23
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
8.270699
seq distance
23
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.545414
seq distance
7
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
9.545414
seq distance
7
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.327525
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
11.327525
seq distance
22
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
11.733385
seq distance
38
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
11.733385
seq distance
38
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
11.733385
seq distance
28
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
11.733385
seq distance
28
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
12.246158
seq distance
7
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
12.246158
seq distance
7
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.77929
seq distance
26
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
15.77929
seq distance
26
chain
U
D10C
begin
172
end
291
score
100.0
distance
18.361973
seq distance
24
chain
U
D10C
begin
172
end
291
score
100.0
distance
18.361973
seq distance
24
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.65975
seq distance
54
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.65975
seq distance
54
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
26.775059
seq distance
58
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
26.775059
seq distance
58
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
28.944645
seq distance
32
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
28.944645
seq distance
32
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.211636
seq distance
56
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
29.211636
seq distance
56
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.527464
seq distance
71
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
30.527464
seq distance
71
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
31.549524
seq distance
88
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.867867
seq distance
47
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
35.867867
seq distance
47
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.94556
seq distance
100
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
35.94556
seq distance
100
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.336956
seq distance
134
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
36.336956
seq distance
134
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.4166
seq distance
82
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
36.4166
seq distance
82
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.974434
seq distance
83
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
36.974434
seq distance
83
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.104477
seq distance
37
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
39.104477
seq distance
37
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.39627
seq distance
77
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.39627
seq distance
77
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
41.39627
seq distance
77
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
41.39627
seq distance
77
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
41.808697
seq distance
75
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
41.808697
seq distance
75
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.46304
seq distance
69
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.46304
seq distance
69
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
42.46304
seq distance
69
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
42.46304
seq distance
69
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.247955
seq distance
107
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
43.247955
seq distance
107
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.410213
seq distance
76
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
43.410213
seq distance
76
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
43.754787
seq distance
144
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
43.754787
seq distance
144
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.69704
seq distance
74
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
44.69704
seq distance
74
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
50.923653
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
50.923653
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
53.966087
seq distance
152
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
53.966087
seq distance
152
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
54.09699
seq distance
167
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
54.09699
seq distance
167
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
56.975525
seq distance
168
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
56.975525
seq distance
168
chain
U
Details
Redox score
64.35
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
9.6
Half-sphere exposure sum
59
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
135
Residue number B
148
Peptide name
Uromodulin
7pfp C 217 C 248
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8581946
seq distance
0
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
2.8581946
seq distance
0
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
7
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
7
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
6.96095
seq distance
13
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
6.96095
seq distance
13
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
13.548724
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
13.548724
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
13.548724
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
13.548724
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
16.879848
seq distance
12
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
86
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
86
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
86
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
86
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
44
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
44
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.131529
seq distance
34
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.131529
seq distance
34
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.176693
seq distance
22
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.176693
seq distance
22
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
68
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
68
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.363361
seq distance
15
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
20.363361
seq distance
15
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
67
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
67
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.582758
seq distance
13
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.582758
seq distance
13
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
22.293499
seq distance
46
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
22.293499
seq distance
46
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
99
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
99
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
69
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
69
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
52
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
52
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
167
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
167
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.498865
seq distance
62
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
27.498865
seq distance
62
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.116467
seq distance
67
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
29.116467
seq distance
67
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.769665
seq distance
47
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
29.769665
seq distance
47
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
29.86737
seq distance
68
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
29.86737
seq distance
68
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
34.9046
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
34.9046
seq distance
69
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
34.9046
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
34.9046
seq distance
69
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
173
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
173
chain
C
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
38.087353
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
38.087353
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
85
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
85
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.787594
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.787594
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
43.8741
seq distance
82
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
43.8741
seq distance
82
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
45.361984
seq distance
97
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
45.361984
seq distance
97
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.827446
seq distance
91
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
45.827446
seq distance
91
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.890045
seq distance
89
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
50.890045
seq distance
89
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.12021
seq distance
105
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
51.12021
seq distance
105
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.55595
seq distance
120
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
56.55595
seq distance
120
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.55595
seq distance
110
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
56.55595
seq distance
110
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.74473
seq distance
108
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
58.74473
seq distance
108
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
182
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
182
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
182
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
182
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
187
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
187
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.69082
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.69082
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
72.29284
seq distance
140
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
72.29284
seq distance
140
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.33526
seq distance
114
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
74.33526
seq distance
114
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
75.320335
seq distance
153
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
75.320335
seq distance
153
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.19512
seq distance
165
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.19512
seq distance
165
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.902176
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.902176
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
85.4439
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
85.4439
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
87.99246
seq distance
158
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
87.99246
seq distance
158
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
92.05562
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
92.05562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.59634
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.59634
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.59951
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.59951
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
93.50917
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
93.50917
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
93.50917
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
93.50917
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
96.78247
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
96.78247
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
99.708595
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
99.708595
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.89769
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.89769
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.89769
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.89769
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.34781
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.34781
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
104.09084
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
104.09084
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
106.34284
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
106.34284
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.560135
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.560135
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
121.000755
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
121.000755
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
121.14822
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
121.14822
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.42032
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.42032
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.42032
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.42032
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.32074
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.32074
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
145.2015
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
145.2015
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.85333
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.85333
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.41888
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.41888
seq distance
False
chain
A
Details
Redox score
64.19
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
8.61
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
217
Residue number B
248
Peptide name
Uromodulin
7q3n U 50 U 52
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8360379
seq distance
0
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
2.8360379
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
2.8581135
seq distance
0
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
2.8581135
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
6.190065
seq distance
7
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
6.190065
seq distance
7
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.063093
seq distance
13
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
9.063093
seq distance
13
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
19.282454
seq distance
25
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
19.282454
seq distance
25
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.31978
seq distance
41
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.31978
seq distance
41
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
23.145992
seq distance
51
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
23.145992
seq distance
51
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
28.86416
seq distance
56
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
28.86416
seq distance
56
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
32.227665
seq distance
57
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
32.227665
seq distance
57
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
35.5461
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
35.5461
seq distance
60
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
37.303337
seq distance
76
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
37.303337
seq distance
76
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
37.700325
seq distance
68
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
37.700325
seq distance
68
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
39.509228
seq distance
74
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
39.509228
seq distance
74
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
39.77204
seq distance
83
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
39.77204
seq distance
83
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
48.206196
seq distance
96
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
48.206196
seq distance
96
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
48.206196
seq distance
96
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
48.206196
seq distance
96
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
49.903484
seq distance
98
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
49.903484
seq distance
98
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
54.014374
seq distance
98
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
54.014374
seq distance
98
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
55.449253
seq distance
118
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
55.449253
seq distance
118
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
58.089966
seq distance
103
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
58.089966
seq distance
103
chain
U
D10C
begin
172
end
291
score
100.0
distance
60.856716
seq distance
120
chain
U
D10C
begin
172
end
291
score
100.0
distance
60.856716
seq distance
120
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
66.230606
seq distance
150
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
66.230606
seq distance
150
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.64145
seq distance
152
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
71.64145
seq distance
152
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
71.932915
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
71.932915
seq distance
False
chain
F
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
76.844765
seq distance
184
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.298775
seq distance
143
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
77.298775
seq distance
143
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
78.01733
seq distance
230
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
78.01733
seq distance
230
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
81.75671
seq distance
133
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
81.75671
seq distance
133
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
81.86578
seq distance
196
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
81.86578
seq distance
196
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
81.87252
seq distance
178
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
81.87252
seq distance
178
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
83.891785
seq distance
173
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
83.891785
seq distance
173
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
83.891785
seq distance
173
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
83.891785
seq distance
173
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
84.86114
seq distance
171
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
84.86114
seq distance
171
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
85.32692
seq distance
240
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
85.32692
seq distance
240
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.10701
seq distance
170
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
88.10701
seq distance
170
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
88.18833
seq distance
165
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
88.18833
seq distance
165
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
88.18833
seq distance
165
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
88.18833
seq distance
165
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
88.99657
seq distance
203
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
88.99657
seq distance
203
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.53603
seq distance
248
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
95.53603
seq distance
248
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.41408
seq distance
263
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
97.41408
seq distance
263
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.64339
seq distance
264
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
100.64339
seq distance
264
chain
U
Details
Redox score
64.17
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
9.52
Half-sphere exposure sum
63
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
50
Residue number B
52
Peptide name
Uromodulin
4wrn A 400 A 417
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
2.8286934
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
3.5576966
seq distance
30
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
3.5576966
seq distance
30
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
3.5576966
seq distance
17
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
3.5576966
seq distance
17
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
3.5576966
seq distance
17
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
3.5576966
seq distance
17
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
2
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
2
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
5.673408
seq distance
1
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
19.353584
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
19.353584
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
19.353584
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
19.353584
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
19.353584
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
19.353584
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
98
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.798925
seq distance
98
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
19.983604
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
19.983604
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
20.446218
seq distance
16
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
20.446218
seq distance
16
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.424753
seq distance
104
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
22.424753
seq distance
104
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
25.576712
seq distance
105
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
25.576712
seq distance
105
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
26.968903
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
26.968903
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
28.101875
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
28.101875
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
34.04327
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
34.04327
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
35.095596
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
42.62874
seq distance
113
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
42.62874
seq distance
113
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
42.62874
seq distance
113
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
42.62874
seq distance
113
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
137
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
44.960728
seq distance
137
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
49.39974
seq distance
118
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
49.39974
seq distance
118
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
49.792805
seq distance
137
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
49.792805
seq distance
137
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.38723
seq distance
254
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
54.38723
seq distance
254
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
54.787605
seq distance
144
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
54.787605
seq distance
144
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
54.95225
seq distance
141
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.536602
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
61.677803
seq distance
281
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
61.677803
seq distance
281
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
61.677803
seq distance
281
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
61.677803
seq distance
281
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
61.856777
seq distance
189
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
61.856777
seq distance
189
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
64.8313
seq distance
285
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
64.8313
seq distance
285
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
65.41506
seq distance
238
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
65.41506
seq distance
238
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
66.36902
seq distance
288
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
66.36902
seq distance
288
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
69.13604
seq distance
270
chain
A
Details
Redox score
63.95
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
9.96
Half-sphere exposure sum
54
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
300 (Residue 400 in this structure)
Residue number B
317 (Residue 417 in this structure)
Peptide name
Uromodulin
7pfp C 137 C 170
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8171644
seq distance
0
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
2.8171644
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8171644
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.8171644
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8494098
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.8494098
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
3.560108
seq distance
11
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.75392
seq distance
15
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
3.75392
seq distance
15
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.9815135
seq distance
13
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
5.9815135
seq distance
13
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.203843
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.203843
seq distance
2
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.941139
seq distance
2
chain
C
D10C
begin
172
end
291
score
100.0
distance
8.941139
seq distance
2
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.488647
seq distance
17
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.488647
seq distance
17
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.519124
seq distance
11
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.519124
seq distance
11
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.666297
seq distance
32
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
14.666297
seq distance
32
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.6144
seq distance
9
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
15.6144
seq distance
9
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.099089
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.099089
seq distance
25
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.42962
seq distance
34
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
20.42962
seq distance
34
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.636585
seq distance
40
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
20.636585
seq distance
40
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.636585
seq distance
30
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
20.636585
seq distance
30
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
22.004519
seq distance
66
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.915886
seq distance
28
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
23.915886
seq distance
28
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.464624
seq distance
60
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
28.464624
seq distance
60
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.721287
seq distance
78
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
28.721287
seq distance
78
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
30.409416
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
30.409416
seq distance
25
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
31.227367
seq distance
112
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
31.227367
seq distance
112
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.501053
seq distance
15
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
31.501053
seq distance
15
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
34.12651
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
34.12651
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
34.12651
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
34.12651
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
34.219707
seq distance
53
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
34.219707
seq distance
53
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
34.692398
seq distance
122
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
34.692398
seq distance
122
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
34.748535
seq distance
55
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
34.748535
seq distance
55
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
34.748535
seq distance
55
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
34.748535
seq distance
55
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.93236
seq distance
47
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.93236
seq distance
47
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
34.93236
seq distance
47
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
34.93236
seq distance
47
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.624165
seq distance
60
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
35.624165
seq distance
60
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
36.39667
seq distance
85
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
36.39667
seq distance
85
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
37.260098
seq distance
52
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
37.260098
seq distance
52
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
37.471092
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
37.471092
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
37.471092
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
37.471092
seq distance
False
chain
B
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.488747
seq distance
34
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
38.488747
seq distance
34
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
38.827118
seq distance
73
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
38.827118
seq distance
73
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.031193
seq distance
145
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
45.031193
seq distance
145
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.207638
seq distance
130
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
45.207638
seq distance
130
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
45.887753
seq distance
85
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
45.887753
seq distance
85
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
46.713345
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
46.713345
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.713345
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
46.713345
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
47.43729
seq distance
164
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
47.43729
seq distance
164
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
47.43729
seq distance
164
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
47.43729
seq distance
164
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
47.89467
seq distance
146
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
47.89467
seq distance
146
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
49.113815
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
49.113815
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.62241
seq distance
78
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.62241
seq distance
78
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
51.66875
seq distance
147
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
51.66875
seq distance
147
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
52.016865
seq distance
177
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
52.016865
seq distance
177
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
52.51934
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
52.51934
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
52.51934
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
52.51934
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
57.025368
seq distance
245
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
57.025368
seq distance
245
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
57.44511
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
57.44511
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
61.006092
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
61.006092
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
61.006092
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
61.006092
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
61.006092
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
61.006092
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
61.949795
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
61.949795
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.06118
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
63.06118
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
63.77948
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
63.77948
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
64.99369
seq distance
251
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
64.99369
seq distance
251
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
65.27381
seq distance
163
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
65.27381
seq distance
163
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
69.44305
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
71.38592
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.84934
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
71.84934
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
73.237465
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
73.237465
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
78.05224
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
78.05224
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
78.05224
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
78.05224
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
80.589775
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.77831
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
81.77831
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
83.01911
seq distance
260
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
83.01911
seq distance
260
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.536285
seq distance
265
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
84.536285
seq distance
265
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
84.63292
seq distance
260
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
84.63292
seq distance
260
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
85.77963
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
86.77151
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
91.02127
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
91.8467
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
94.64101
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
94.79582
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
96.91848
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
97.15764
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
98.25102
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
98.94111
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
100.82585
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.26653
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
101.26653
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
102.251854
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
103.518425
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
105.06652
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
105.798195
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
108.1001
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
108.1001
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
108.1001
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
108.1001
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
108.206924
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
110.40085
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
112.639534
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
116.89675
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
121.06287
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
123.7393
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
129.65517
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
130.4171
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
130.74976
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
131.78552
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
133.90369
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
142.39647
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
143.72794
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
146.38464
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
150.68314
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
152.50742
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
156.45052
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
159.70389
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
161.24196
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
168.69724
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
168.82057
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
173.40285
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
174.47885
seq distance
False
chain
A
Details
Redox score
63.81
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
9.92
Half-sphere exposure sum
61
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
137
Residue number B
170
Peptide name
Uromodulin
4wrn A 415 A 447
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.7871602
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
15
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
3.4485126
seq distance
15
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
3.7216873
seq distance
2
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
3.7216873
seq distance
2
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.2063084
seq distance
1
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.92847
seq distance
68
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.92847
seq distance
68
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
28.314087
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
29.926727
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.512623
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.33577
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.42913
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
34.54486
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
37.75681
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
38.48775
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
41.285748
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
45.198124
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
46.453423
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
46.823174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
55.69763
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
58.44643
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Details
Redox score
63.65
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
9.73
Half-sphere exposure sum
57
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
315 (Residue 415 in this structure)
Residue number B
347 (Residue 447 in this structure)
Peptide name
Uromodulin
7pfp C 148 C 161
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
Beta hairpin
begin
150
end
171
score
100.0
distance
2.778766
seq distance
0
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
2.778766
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
2.821756
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.821756
seq distance
0
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
2.821756
seq distance
0
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.5342321
seq distance
2
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
3.5342321
seq distance
2
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
5.5960073
seq distance
9
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
5.5960073
seq distance
9
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
7.3605094
seq distance
6
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
7.3605094
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.955583
seq distance
13
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
7.955583
seq distance
13
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.008052
seq distance
28
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
9.008052
seq distance
28
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.8103895
seq distance
22
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
10.8103895
seq distance
22
chain
C
D10C
begin
172
end
291
score
100.0
distance
10.98604
seq distance
11
chain
C
D10C
begin
172
end
291
score
100.0
distance
10.98604
seq distance
11
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.319189
seq distance
41
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
12.319189
seq distance
41
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.178604
seq distance
36
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
16.178604
seq distance
36
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.438023
seq distance
20
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
16.438023
seq distance
20
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.045933
seq distance
43
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
19.045933
seq distance
43
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.447798
seq distance
51
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
21.447798
seq distance
51
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
21.447798
seq distance
41
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
21.447798
seq distance
41
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
23.126635
seq distance
75
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.421022
seq distance
39
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
24.421022
seq distance
39
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.242556
seq distance
34
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
26.242556
seq distance
34
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.416643
seq distance
69
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
26.416643
seq distance
69
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.433264
seq distance
87
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
26.433264
seq distance
87
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
26.8417
seq distance
121
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
26.8417
seq distance
121
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
28.788437
seq distance
24
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
28.788437
seq distance
24
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
30.30372
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
30.30372
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
30.30372
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
30.30372
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.23812
seq distance
64
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.23812
seq distance
64
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
31.23812
seq distance
64
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
31.23812
seq distance
64
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.37765
seq distance
62
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
31.37765
seq distance
62
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
33.06574
seq distance
56
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
33.06574
seq distance
56
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
33.06574
seq distance
56
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
33.06574
seq distance
56
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
33.296116
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
33.296116
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
33.296116
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
33.296116
seq distance
False
chain
B
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.04531
seq distance
94
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
34.04531
seq distance
94
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.377476
seq distance
61
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
34.377476
seq distance
61
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
34.6876
seq distance
131
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
34.6876
seq distance
131
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
36.342167
seq distance
71
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
36.342167
seq distance
71
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
39.039608
seq distance
45
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
39.039608
seq distance
45
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.118053
seq distance
84
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
39.118053
seq distance
84
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
41.352165
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.352165
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
41.352165
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
41.352165
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
43.947212
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
43.947212
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
44.115788
seq distance
154
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
44.115788
seq distance
154
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.125423
seq distance
139
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
44.125423
seq distance
139
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
44.641396
seq distance
173
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
44.641396
seq distance
173
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
44.641396
seq distance
173
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
44.641396
seq distance
173
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
45.947224
seq distance
96
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
45.947224
seq distance
96
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.771225
seq distance
155
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
46.771225
seq distance
155
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
47.30312
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
47.30312
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
47.30312
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
47.30312
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.163727
seq distance
186
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
50.163727
seq distance
186
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.489494
seq distance
156
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
50.489494
seq distance
156
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.881966
seq distance
89
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
51.881966
seq distance
89
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
53.490433
seq distance
254
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
53.490433
seq distance
254
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
53.563114
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
53.563114
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
55.91968
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
55.91968
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
55.91968
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
55.91968
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
55.91968
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
55.91968
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
57.191067
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
57.191067
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
57.72405
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
57.72405
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
59.05576
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
59.05576
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
62.01951
seq distance
260
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
62.01951
seq distance
260
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
62.94219
seq distance
172
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
62.94219
seq distance
172
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
65.79134
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
65.79134
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
66.12652
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
66.12652
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.28214
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
69.28214
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
70.86199
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
70.86199
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
75.76293
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
75.76293
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
75.76293
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
75.76293
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
78.73069
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
78.73069
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
79.76015
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
79.76015
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
81.12016
seq distance
269
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
81.12016
seq distance
269
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
81.82862
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
81.82862
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
82.12822
seq distance
269
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
82.12822
seq distance
269
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
82.229294
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
82.229294
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
82.71144
seq distance
274
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
82.71144
seq distance
274
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
87.006584
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
87.006584
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
87.561646
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
87.561646
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
89.47263
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
89.47263
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.887924
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
89.887924
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
92.22871
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
92.22871
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
93.55468
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
93.55468
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
95.15975
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
95.15975
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
95.15975
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
95.15975
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
95.35672
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
95.35672
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
96.93555
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
96.93555
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
99.30378
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
99.30378
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
99.63985
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
99.63985
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
101.02146
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
101.02146
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
101.754425
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
101.754425
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
101.754425
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
101.754425
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.122826
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.122826
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
104.75578
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
104.75578
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
105.355736
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
105.355736
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
105.355736
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
105.355736
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
107.40736
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
107.40736
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
108.29362
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
108.29362
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
112.99772
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
112.99772
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
116.794975
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
119.99809
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
119.99809
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
125.67712
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
125.67712
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
127.023705
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
127.023705
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
127.43089
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
127.43089
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
128.01599
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
128.01599
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
130.42702
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
130.42702
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
130.42702
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
130.42702
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
138.57794
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
138.57794
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
140.18483
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
140.18483
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
142.55455
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
142.55455
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
146.63892
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
146.63892
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
148.81964
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
148.81964
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
152.94568
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
152.94568
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
152.94568
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
152.94568
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
155.6938
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
155.6938
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
157.65218
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
157.65218
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
165.06493
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
165.06493
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
165.33498
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
165.33498
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
169.42174
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
169.42174
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
171.12505
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
171.12505
seq distance
False
chain
A
Details
Redox score
63.63
PDB code
7pfp
Structure name
full-length cryo-em structure of the native human uromodulin (umod) /tamm-horsfall protein (thp) filament
Structure deposition date
2021-08-11
Thiol separation (Å)
9.74
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
148
Residue number B
161
Peptide name
Uromodulin
4wrn A 400 A 447
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP-N
begin
434
end
529
score
100.0
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
ZP
begin
434
end
689
score
98.22443181818183
distance
2.784042
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
400
score
100.0
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
EGF-like 4
begin
396
end
423
score
97.4025974025974
distance
2.803959
seq distance
0
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
15
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
415
score
100.0
distance
3.6655872
seq distance
15
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
3.7216873
seq distance
17
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
417
score
100.0
distance
3.7216873
seq distance
17
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
16
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
416
score
100.0
distance
6.602784
seq distance
16
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP-N
begin
434
end
529
score
100.0
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
ZP
begin
434
end
689
score
98.22443181818183
distance
17.47356
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
18.078892
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
18.913942
seq distance
14
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.92847
seq distance
68
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
19.92847
seq distance
68
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
521
score
100.0
distance
21.182339
seq distance
74
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
522
score
50.0
distance
24.314293
seq distance
75
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
515
score
100.0
distance
25.2708
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
433
score
100.0
distance
26.472458
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
29.219728
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
30.955317
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
31.16437
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
447
score
100.0
distance
32.485954
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.81663
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
34.81663
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
34.927265
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
81.81818181818183
distance
35.976124
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
96.96969696969695
distance
39.14958
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
39.365356
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
530
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
530
end
553
score
100.0
distance
41.367126
seq distance
83
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
42.328617
seq distance
False
chain
B
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
ZP-C
begin
554
end
689
score
96.6577540106952
distance
43.448303
seq distance
107
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
46.72453
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
47.37273
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
47.474174
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
535
score
100.0
distance
48.353714
seq distance
88
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
Internal hydrophobic patch (IHP)
begin
554
end
565
score
100.0
distance
48.580685
seq distance
107
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
52.76901
seq distance
224
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
561
score
100.0
distance
53.543026
seq distance
114
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
558
score
100.0
distance
53.62716
seq distance
111
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.45413
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
671
score
50.0
distance
56.45413
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
59.868145
seq distance
False
chain
B
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
698
end
700
score
100.0
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
External hydrophobic patch (EHP); regulates polymerization into filaments
begin
698
end
706
score
98.98989898989899
distance
60.32638
seq distance
251
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
EGF-like 2; calcium-binding
begin
606
end
606
score
65.9090909090909
distance
60.326424
seq distance
159
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization.
begin
702
end
703
score
100.0
distance
63.608395
seq distance
255
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
655
end
656
score
100.0
distance
63.926533
seq distance
208
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
No effect on secretion. Does not impair polymerization.
begin
705
end
707
score
90.9090909090909
distance
65.26467
seq distance
258
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Essential for cleavage by HPN
begin
687
end
689
score
54.54545454545454
distance
67.35323
seq distance
240
chain
A
Details
Redox score
63.55
PDB code
4wrn
Structure name
crystal structure of the polymerization region of human uromodulin/tamm-horsfall protein
Structure deposition date
2014-10-24
Thiol separation (Å)
9.97
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
300 (Residue 400 in this structure)
Residue number B
347 (Residue 447 in this structure)
Peptide name
Uromodulin
7q3n U 217 U 287
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.7731614
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.7731614
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.7731614
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.3483567
seq distance
32
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.3483567
seq distance
32
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
4.4520807
seq distance
6
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
4.4520807
seq distance
6
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.885615
seq distance
32
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.885615
seq distance
32
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.90557
seq distance
13
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.90557
seq distance
13
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
5.9295287
seq distance
5
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
5.9295287
seq distance
5
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
7.6116896
seq distance
8
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
7.6116896
seq distance
8
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
7.6116896
seq distance
8
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
7.6116896
seq distance
8
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
8.107156
seq distance
31
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
8.107156
seq distance
31
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.017306
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.017306
seq distance
22
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
14.169372
seq distance
5
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
14.169372
seq distance
5
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
15.442964
seq distance
13
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
15.442964
seq distance
13
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.250904
seq distance
5
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.250904
seq distance
5
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.367643
seq distance
15
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.367643
seq distance
15
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
18.802937
seq distance
28
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
18.802937
seq distance
28
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
20.218443
seq distance
13
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
20.218443
seq distance
13
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.282843
seq distance
29
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.282843
seq distance
29
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
25.845316
seq distance
46
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
25.845316
seq distance
46
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.89043
seq distance
47
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.89043
seq distance
47
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.946478
seq distance
62
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.946478
seq distance
62
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
32.115788
seq distance
67
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
32.115788
seq distance
67
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
34.088562
seq distance
68
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
34.088562
seq distance
68
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.462364
seq distance
69
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.462364
seq distance
69
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.462364
seq distance
69
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.462364
seq distance
69
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
47.73697
seq distance
82
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
47.73697
seq distance
82
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.852997
seq distance
97
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.852997
seq distance
97
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
49.368393
seq distance
91
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
49.368393
seq distance
91
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
54.159035
seq distance
105
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
54.159035
seq distance
105
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.98239
seq distance
89
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.98239
seq distance
89
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.61214
seq distance
120
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.61214
seq distance
120
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.61214
seq distance
110
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.61214
seq distance
110
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
62.333393
seq distance
108
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
62.333393
seq distance
108
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
69.272545
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
69.272545
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
75.36861
seq distance
140
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
75.36861
seq distance
140
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.04722
seq distance
114
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.04722
seq distance
114
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.49728
seq distance
153
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.49728
seq distance
153
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.95851
seq distance
165
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.95851
seq distance
165
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.74467
seq distance
158
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.74467
seq distance
158
chain
U
Details
Redox score
63.35
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
9.18
Half-sphere exposure sum
78
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
217
Residue number B
287
Peptide name
Uromodulin
7q3n U 255 U 287
A redox-regulated disulphide may form within Uromodulin at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.
Relevent regions
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
D10C
begin
172
end
291
score
100.0
distance
2.801876
seq distance
0
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
3.9386234
seq distance
38
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
4.4520807
seq distance
32
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
4.4520807
seq distance
32
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.885615
seq distance
70
chain
U
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
5.885615
seq distance
70
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.90557
seq distance
25
chain
U
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
5.90557
seq distance
25
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
5.9295287
seq distance
33
chain
U
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
5.9295287
seq distance
33
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
6.643409
seq distance
7
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
6.643409
seq distance
7
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
7.6116896
seq distance
30
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
7.6116896
seq distance
30
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
7.6116896
seq distance
30
chain
U
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
7.6116896
seq distance
30
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.017306
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
12.017306
seq distance
60
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
14.169372
seq distance
5
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
14.169372
seq distance
5
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
15.442964
seq distance
51
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
15.442964
seq distance
51
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.272995
seq distance
5
chain
U
EGF-like 4
begin
292
end
314
score
97.62845849802372
distance
16.272995
seq distance
5
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.367643
seq distance
53
chain
U
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
18.367643
seq distance
53
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
18.802937
seq distance
28
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
63.63636363636363
distance
18.802937
seq distance
28
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
19.92771
seq distance
19
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
20.218443
seq distance
13
chain
U
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
20.218443
seq distance
13
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.282843
seq distance
29
chain
U
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
54.54545454545454
distance
20.282843
seq distance
29
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
25.845316
seq distance
84
chain
U
Beta hairpin
begin
150
end
171
score
100.0
distance
25.845316
seq distance
84
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.89043
seq distance
85
chain
U
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
30.89043
seq distance
85
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.946478
seq distance
100
chain
U
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
30.946478
seq distance
100
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
32.115788
seq distance
105
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
32.115788
seq distance
105
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
34.088562
seq distance
106
chain
U
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
34.088562
seq distance
106
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.462364
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.462364
seq distance
107
chain
U
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
37.462364
seq distance
107
chain
U
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
37.462364
seq distance
107
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
47.73697
seq distance
120
chain
U
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
47.73697
seq distance
120
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.852997
seq distance
135
chain
U
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
47.852997
seq distance
135
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
49.368393
seq distance
129
chain
U
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
49.368393
seq distance
129
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
54.159035
seq distance
143
chain
U
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
54.159035
seq distance
143
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.98239
seq distance
127
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
54.98239
seq distance
127
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.61214
seq distance
158
chain
U
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
59.61214
seq distance
158
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.61214
seq distance
148
chain
U
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
59.61214
seq distance
148
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
62.333393
seq distance
146
chain
U
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
62.333393
seq distance
146
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.259476
seq distance
False
chain
F
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
29
score
50.0
distance
67.259476
seq distance
False
chain
F
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
75.36861
seq distance
178
chain
U
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
75.36861
seq distance
178
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.04722
seq distance
152
chain
U
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
77.04722
seq distance
152
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.49728
seq distance
191
chain
U
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
77.49728
seq distance
191
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.95851
seq distance
203
chain
U
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
82.95851
seq distance
203
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.74467
seq distance
196
chain
U
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
89.74467
seq distance
196
chain
U
Details
Redox score
62.85
PDB code
7q3n
Structure name
cryo-em of the complex between human uromodulin (umod)/tamm-horsfall protein (thp) and the fimh lectin domain from uropathogenic e. coli
Structure deposition date
2021-10-28
Thiol separation (Å)
9.97
Half-sphere exposure sum
69
Minimum pKa
nan
% buried
nan
Peptide accession
P07911
Residue number A
255
Residue number B
287
Peptide name
Uromodulin
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